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Ex.: O00571, ddx3x (keyword), ATP-dependent RNA helicase DDX3X, PXD000680 or 3JRV

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PDB

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Phospho-sites

Showing 8 results

Swiss-Prot Position	Modification	Source	Evidence	Singly phosphorylated
619	THR	PRIDE		yes
813	SER	PRIDE
814	SER	PRIDE
1037	SER	PRIDE		yes
1970	THR	PRIDE		yes
2072	SER	PRIDE		yes
2702	SER	UP, PRIDE	Combined	yes
2709	SER	UP, PRIDE	Similarity	yes

Swiss-Prot Position

Modification

Source

Evidence

Singly phosphorylated

619

THR

PRIDE

yes

813

SER

PRIDE

814

SER

PRIDE

1037

SER

PRIDE

yes

1970

THR

PRIDE

yes

2072

SER

PRIDE

yes

2702

SER

UP, PRIDE

Combined

yes

2709

SER

UP, PRIDE

Similarity

yes

3D structure is not available

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Phosphorylated amino acids are colored red on the inner ring.

The first amino acid of the protein sequence is colored darker on each ring.

Phospho peptides

Showing 8 results

Sequence

Modified position (Swiss-Prot)

Peptide start

Peptide end

Modified position (Peptide)

Number of projects

619

613

627

ProteomeXchange accession	Peptide frequency	Project Title	Species	Submission Type	Publication Date	Tissues	USI
PXD000612	1	Ultra-deep human phosphoproteome reveals different regulatory nature of Tyr and Ser/Thr-based signaling	Homo sapiens (Human)	PARTIAL	2014-08-06	cell culture

813

795

822

ProteomeXchange accession	Peptide frequency	Project Title	Species	Submission Type	Publication Date	Tissues	USI
PXD004252	1	Modulating the selectivity of affinity absorbents to multi-phosphopeptides by a novel competitive substitution strategy	Homo sapiens (Human)	PARTIAL	2016-08-03	cell culture

814

795

822

ProteomeXchange accession	Peptide frequency	Project Title	Species	Submission Type	Publication Date	Tissues	USI
PXD004252	1	Modulating the selectivity of affinity absorbents to multi-phosphopeptides by a novel competitive substitution strategy	Homo sapiens (Human)	PARTIAL	2016-08-03	cell culture

1037

1024

1043

ProteomeXchange accession	Peptide frequency	Project Title	Species	Submission Type	Publication Date	Tissues	USI
PXD004415	1	Quantitative phosphoproteome analysis of cisplatin-induced apoptosis in Jurkat T cells	Homo sapiens (Human)	COMPLETE	2017-05-11	T lymphocyte

1970

1982

ProteomeXchange accession	Peptide frequency	Project Title	Species	Submission Type	Publication Date	Tissues	USI
PXD004415	1	Quantitative phosphoproteome analysis of cisplatin-induced apoptosis in Jurkat T cells	Homo sapiens (Human)	COMPLETE	2017-05-11	T lymphocyte

2072

2065

2076

ProteomeXchange accession	Peptide frequency	Project Title	Species	Submission Type	Publication Date	Tissues	USI
PXD000680	1	Stable isotope labeling of phosphoproteins for large-scale phosphorylation rate determination	Homo sapiens (Human)	COMPLETE	2014-04-15	HeLa cell,HEK-293 cell

2702

2695

2719

ProteomeXchange accession	Peptide frequency	Project Title	Species	Submission Type	Publication Date	Tissues	USI
PXD006482	1	Identification of Missing Proteins in the Phosphoproteome of Kidney Cancer	Homo sapiens (Human)	COMPLETE	2017-09-01	kidney
PXD002286	112	Phospo-proteomic profiling of Castration Resistant Prostate Cancer	Homo sapiens (Human)	PARTIAL	2016-08-19	-	-

2709

2695

2719

ProteomeXchange accession	Peptide frequency	Project Title	Species	Submission Type	Publication Date	Tissues	USI
PXD002286	32	Phospo-proteomic profiling of Castration Resistant Prostate Cancer	Homo sapiens (Human)	PARTIAL	2016-08-19	-	-
PXD004452	1	HeLa proteome of 12,250 protein-coding genes	Homo sapiens (Human)	PARTIAL	2017-06-12	liver,colon

Structures

Showing 1 results

PDB id

Chain

Method

Resolution

Stoichiometry

Interfacing Molecule/Chain

Complex Formation Significance Score (CSS)

P-sites

View Structure

2W86

X-ray

1.7999999523162842

Monomer

[CA]A:1148

0.05637532

Swiss-Prot position	PDB position	Residue	Secondary Structure	Conserved Scale	Accessible surface area	Buried surface area
813	9	SER	H	1.0	81.53961944580078	0.0
814	10	SER	C	0.73	33.88380432128906	0.0

Mutations

Showing 342 results

Swiss-Prot Position	Amino acid (Wild type)	Amino acid (Variant)	Variant Type	Disease
20	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
27	A	T	Polymorphism
39	A	P	Disease
55	G	E	Disease	Marfan syndrome (MFS) [MIM:154700]
57	N	D	Disease	Marfan syndrome (MFS) [MIM:154700]
62	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
63	Y	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
68	C	S	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
80	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
89	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
100	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
111	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
114	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
115	S	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
122	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
123	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
127	G	D	Disease
129	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
133	H	Q	Polymorphism
136	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
154	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
160	C	R	Disease
164	N	S	Disease
166	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
177	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
214	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
217	W	G	Disease	Marfan syndrome (MFS) [MIM:154700]
219	H	Q	Disease	Marfan syndrome (MFS) [MIM:154700]
224	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
240	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
329	I	T	Polymorphism
363	G	S	Polymorphism
365	C	W	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
366	W	C	Disease	Marfan syndrome (MFS) [MIM:154700]
439	R	G	Disease	Marfan syndrome (MFS) [MIM:154700]
449	V	I	Disease	Marfan syndrome (MFS) [MIM:154700]
472	Y	C	Polymorphism
474	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
476	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
488	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
490	D	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
499	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
504	C	R	Disease
541	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
545	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
546	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
548	N	I	Disease	Marfan syndrome (MFS) [MIM:154700]
560	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
570	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
576	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
582	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
587	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
592	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
596	C	R	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
598	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
611	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
617	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
623	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
627	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
634	S	P	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
635	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
636	R	I	Disease	Marfan syndrome (MFS) [MIM:154700]
652	C	Y	Disease
654	D	N	Disease	Marfan syndrome (MFS) [MIM:154700]
661	C	Y	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
681	S	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
683	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
684	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
685	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
699	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
705	A	T	Disease	Marfan syndrome (MFS) [MIM:154700]
711	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
721	G	C	Disease	Marfan syndrome (MFS) [MIM:154700]
723	D	A	Disease	Marfan syndrome (MFS) [MIM:154700]
727	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
734	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
746	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
748	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
750	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
776	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
781	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
790	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
811	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
816	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
828	F	C	Disease	Marfan syndrome (MFS) [MIM:154700]
832	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
853	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
862	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
880	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
882	A	V	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
884	G	E	Disease	Marfan syndrome (MFS) [MIM:154700]
890	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
908	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
910	D	H	Disease	Marfan syndrome (MFS) [MIM:154700]
913	E	G	Disease	Marfan syndrome (MFS) [MIM:154700]
921	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
926	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
937	C	R	Disease
954	R	C	Disease
974	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
976	R	H	Disease	Marfan syndrome (MFS) [MIM:154700]
984	V	I	Disease	Marfan syndrome (MFS) [MIM:154700]
985	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
996	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1008	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1013	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1020	T	A	Disease
1023	K	N	Disease	Marfan syndrome (MFS) [MIM:154700]
1028	D	G	Disease
1032	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1042	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1043	K	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1044	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1048	I	V	Polymorphism
1053	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1055	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
1058	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
1068	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1072	D	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1073	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
1074	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1086	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
1088	N	I	Disease	Marfan syndrome (MFS) [MIM:154700]
1090	P	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1101	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
1113	D	G	Polymorphism
1117	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1127	G	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1128	V	I	Unclassified
1129	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1130	H	P	Disease	Marfan syndrome (MFS) [MIM:154700]
1131	N	Y	Polymorphism
1137	R	P	Disease	Marfan syndrome (MFS) [MIM:154700]
1138	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1148	P	A	Polymorphism
1153	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1155	D	N	Disease	Marfan syndrome (MFS) [MIM:154700]
1158	E	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1170	R	H	Disease	Marfan syndrome (MFS) [MIM:154700]
1171	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
1173	N	K	Disease	Marfan syndrome (MFS) [MIM:154700]
1182	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
1185	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
1199	D	A	Disease	Marfan syndrome (MFS) [MIM:154700]
1200	E	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1219	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
1223	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1242	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1249	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1261	Y	D	Disease	Marfan syndrome (MFS) [MIM:154700]
1265	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1278	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1282	N	S	Polymorphism
1284	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1307	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1320	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1325	E	Q	Disease	Marfan syndrome (MFS) [MIM:154700]
1326	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1333	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1337	A	P	Disease	Marfan syndrome (MFS) [MIM:154700]
1339	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1346	F	L	Disease	Marfan syndrome (MFS) [MIM:154700]
1350	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
1366	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
1374	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1382	N	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1389	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1401	T	A	Disease	Marfan syndrome (MFS) [MIM:154700]
1402	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1404	D	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1406	D	G	Disease
1424	P	A	Disease	Marfan syndrome (MFS) [MIM:154700]
1427	Y	D	Disease	Marfan syndrome (MFS) [MIM:154700]
1429	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1431	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
1475	G	E	Disease	Marfan syndrome (MFS) [MIM:154700]
1481	S	G	Polymorphism
1485	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1487	D	A	Disease	Marfan syndrome (MFS) [MIM:154700]
1489	N	K	Disease	Marfan syndrome (MFS) [MIM:154700]
1513	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1528	D	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1530	R	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
1564	C	S	Disease	Stiff skin syndrome (SSKS) [MIM:184900]
1570	W	C	Disease	Stiff skin syndrome (SSKS) [MIM:184900]
1576	M	T	Disease	Marfan syndrome (MFS) [MIM:154700]
1577	C	G	Disease	Stiff skin syndrome (SSKS) [MIM:184900]
1589	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
1594	G	D	Disease	Stiff skin syndrome (SSKS) [MIM:184900]
1610	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1622	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1631	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1633	C	S	Disease
1642	D	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1663	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1672	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1674	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1696	Y	C	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
1699	Y	C	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
1700	Y	C	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
1706	C	Y	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
1714	M	R	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
1719	C	W	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
1720	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1722	S	C	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
1726	G	V	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
1728	A	V	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
1733	C	Y	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
1750	S	R	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
1758	D	V	Disease	Acromicric dysplasia (ACMICD) [MIM:102370]
1762	G	S	Disease	Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
1770	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
1777	C	F	Disease
1790	R	P	Disease	Marfan syndrome (MFS) [MIM:154700]
1791	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1793	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
1796	G	V	Disease	Marfan syndrome (MFS) [MIM:154700]
1806	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1811	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
1812	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1826	N	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1830	S	C	Disease	Marfan syndrome (MFS) [MIM:154700]
1833	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1835	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1837	P	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1838	G	C	Disease	Marfan syndrome (MFS) [MIM:154700]
1847	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1860	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1865	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1876	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1879	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
1887	T	I	Disease	Marfan syndrome (MFS) [MIM:154700]
1893	N	K	Disease	Marfan syndrome (MFS) [MIM:154700]
1894	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
1895	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1900	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1907	N	S	Disease
1908	T	I	Disease	Marfan syndrome (MFS) [MIM:154700]
1909	I	T	Disease	Marfan syndrome (MFS) [MIM:154700]
1915	R	S	Disease	Marfan syndrome (MFS) [MIM:154700]
1919	G	D	Disease	Marfan syndrome (MFS) [MIM:154700]
1928	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1930	D	H	Disease
1934	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1971	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
1976	E	G	Disease	Marfan syndrome (MFS) [MIM:154700]
1977	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
1984	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1987	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
1998	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2018	V	I	Polymorphism
2038	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2053	C	F	Polymorphism
2084	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2085	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2099	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
2101	T	M	Polymorphism
2105	E	K	Disease
2111	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2113	Y	F	Polymorphism
2118	I	M	Disease	Marfan syndrome (MFS) [MIM:154700]
2127	D	E	Disease	Marfan syndrome (MFS) [MIM:154700]
2130	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
2136	V	D	Disease
2142	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2144	N	D	Disease	Marfan syndrome (MFS) [MIM:154700]
2145	T	P	Disease	Marfan syndrome (MFS) [MIM:154700]
2151	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
2153	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2154	P	R	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
2160	A	P	Disease	Marfan syndrome (MFS) [MIM:154700]
2166	D	N	Disease	Marfan syndrome (MFS) [MIM:154700]
2170	C	F	Polymorphism
2185	I	T	Disease	Marfan syndrome (MFS) [MIM:154700]
2195	G	R	Disease
2221	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
2223	N	H	Disease	Marfan syndrome (MFS) [MIM:154700]
2224	T	P	Disease
2232	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2234	V	M	Disease
2247	D	G	Disease	Marfan syndrome (MFS) [MIM:154700]
2250	E	G	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
2251	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2258	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2269	I	T	Disease	Marfan syndrome (MFS) [MIM:154700]
2272	Y	C	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
2273	M	T	Disease
2274	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
2278	P	S	Polymorphism
2282	R	W	Disease	Marfan syndrome (MFS) [MIM:154700]
2284	P	T	Disease	Marfan syndrome (MFS) [MIM:154700]
2289	C	W	Disease
2302	C	Y	Disease
2307	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
2318	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2329	D	E	Polymorphism
2335	R	W	Disease	Marfan syndrome (MFS) [MIM:154700]
2339	C	Y	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
2365	C	Y	Disease
2385	A	T	Disease	Marfan syndrome (MFS) [MIM:154700]
2406	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2442	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
2447	E	K	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
2448	C	R	Disease	Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
2470	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2474	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
2489	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2500	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2511	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2516	T	I	Disease
2520	T	M	Disease	Marfan syndrome (MFS) [MIM:154700]
2522	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2526	N	S	Disease
2535	C	W	Disease	Marfan syndrome (MFS) [MIM:154700]
2536	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2541	C	F	Disease
2554	R	W	Disease
2555	G	V	Disease	Marfan syndrome (MFS) [MIM:154700]
2561	T	P	Disease	Marfan syndrome (MFS) [MIM:154700]
2570	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
2571	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2577	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2581	C	F	Disease	Marfan syndrome (MFS) [MIM:154700]
2585	I	T	Disease	Marfan syndrome (MFS) [MIM:154700]
2592	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
2605	C	Y	Disease	Marfan syndrome (MFS) [MIM:154700]
2610	E	K	Disease	Marfan syndrome (MFS) [MIM:154700]
2618	G	R	Unclassified	Marfan syndrome (MFS) [MIM:154700]
2623	H	P	Disease	Marfan syndrome (MFS) [MIM:154700]
2624	N	K	Disease	Marfan syndrome (MFS) [MIM:154700]
2627	G	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2629	Y	C	Disease	Marfan syndrome (MFS) [MIM:154700]
2646	C	R	Disease	Marfan syndrome (MFS) [MIM:154700]
2652	C	G	Disease	Marfan syndrome (MFS) [MIM:154700]
2663	C	S	Disease	Marfan syndrome (MFS) [MIM:154700]
2668	G	C	Disease	Marfan syndrome (MFS) [MIM:154700]
2680	R	C	Disease	Marfan syndrome (MFS) [MIM:154700]
2708	N	S	Disease	Marfan syndrome (MFS) [MIM:154700]
2726	R	W	Disease
2741	I	T	Disease	Marfanoid-progeroid-lipodystrophy syndrome (MFLS) [MIM:616914]
2780	L	P	Disease
2793	Y	H	Disease

Swiss-Prot Position

Amino acid (Wild type)

Amino acid (Variant)

Variant Type

Disease

Marfan syndrome (MFS) [MIM:154700]

Polymorphism

Disease

Marfan syndrome (MFS) [MIM:154700]

Disease

Marfan syndrome (MFS) [MIM:154700]

Disease

Marfan syndrome (MFS) [MIM:154700]

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

Disease

Marfan syndrome (MFS) [MIM:154700]

Disease

Marfan syndrome (MFS) [MIM:154700]

100

Disease

Marfan syndrome (MFS) [MIM:154700]

111

Disease

Marfan syndrome (MFS) [MIM:154700]

114

Disease

Marfan syndrome (MFS) [MIM:154700]

115

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

122

Disease

Marfan syndrome (MFS) [MIM:154700]

123

Disease

Marfan syndrome (MFS) [MIM:154700]

127

Disease

129

Disease

Marfan syndrome (MFS) [MIM:154700]

133

Polymorphism

136

Disease

Marfan syndrome (MFS) [MIM:154700]

154

Disease

Marfan syndrome (MFS) [MIM:154700]

160

Disease

164

Disease

166

Disease

Marfan syndrome (MFS) [MIM:154700]

177

Disease

Marfan syndrome (MFS) [MIM:154700]

214

Disease

Marfan syndrome (MFS) [MIM:154700]

217

Disease

Marfan syndrome (MFS) [MIM:154700]

219

Disease

Marfan syndrome (MFS) [MIM:154700]

224

Disease

Marfan syndrome (MFS) [MIM:154700]

240

Disease

Marfan syndrome (MFS) [MIM:154700]

329

Polymorphism

363

Polymorphism

365

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

366

Disease

Marfan syndrome (MFS) [MIM:154700]

439

Disease

Marfan syndrome (MFS) [MIM:154700]

449

Disease

Marfan syndrome (MFS) [MIM:154700]

472

Polymorphism

474

Disease

Marfan syndrome (MFS) [MIM:154700]

476

Disease

Marfan syndrome (MFS) [MIM:154700]

488

Disease

Marfan syndrome (MFS) [MIM:154700]

490

Disease

Marfan syndrome (MFS) [MIM:154700]

499

Disease

Marfan syndrome (MFS) [MIM:154700]

504

Disease

541

Disease

Marfan syndrome (MFS) [MIM:154700]

545

Disease

Marfan syndrome (MFS) [MIM:154700]

546

Disease

Marfan syndrome (MFS) [MIM:154700]

548

Disease

Marfan syndrome (MFS) [MIM:154700]

560

Disease

Marfan syndrome (MFS) [MIM:154700]

570

Disease

Marfan syndrome (MFS) [MIM:154700]

576

Disease

Marfan syndrome (MFS) [MIM:154700]

582

Disease

Marfan syndrome (MFS) [MIM:154700]

587

Disease

Marfan syndrome (MFS) [MIM:154700]

592

Disease

Marfan syndrome (MFS) [MIM:154700]

596

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

598

Disease

Marfan syndrome (MFS) [MIM:154700]

611

Disease

Marfan syndrome (MFS) [MIM:154700]

617

Disease

Marfan syndrome (MFS) [MIM:154700]

623

Disease

Marfan syndrome (MFS) [MIM:154700]

627

Disease

Marfan syndrome (MFS) [MIM:154700]

634

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

635

Disease

Marfan syndrome (MFS) [MIM:154700]

636

Disease

Marfan syndrome (MFS) [MIM:154700]

652

Disease

654

Disease

Marfan syndrome (MFS) [MIM:154700]

661

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

681

Disease

Marfan syndrome (MFS) [MIM:154700]

683

Disease

Marfan syndrome (MFS) [MIM:154700]

684

Disease

Marfan syndrome (MFS) [MIM:154700]

685

Disease

Marfan syndrome (MFS) [MIM:154700]

699

Disease

Marfan syndrome (MFS) [MIM:154700]

705

Disease

Marfan syndrome (MFS) [MIM:154700]

711

Disease

Marfan syndrome (MFS) [MIM:154700]

721

Disease

Marfan syndrome (MFS) [MIM:154700]

723

Disease

Marfan syndrome (MFS) [MIM:154700]

727

Disease

Marfan syndrome (MFS) [MIM:154700]

734

Disease

Marfan syndrome (MFS) [MIM:154700]

746

Disease

Marfan syndrome (MFS) [MIM:154700]

748

Disease

Marfan syndrome (MFS) [MIM:154700]

750

Disease

Marfan syndrome (MFS) [MIM:154700]

776

Disease

Marfan syndrome (MFS) [MIM:154700]

781

Disease

Marfan syndrome (MFS) [MIM:154700]

790

Disease

Marfan syndrome (MFS) [MIM:154700]

811

Disease

Marfan syndrome (MFS) [MIM:154700]

816

Disease

Marfan syndrome (MFS) [MIM:154700]

828

Disease

Marfan syndrome (MFS) [MIM:154700]

832

Disease

Marfan syndrome (MFS) [MIM:154700]

853

Disease

Marfan syndrome (MFS) [MIM:154700]

862

Disease

Marfan syndrome (MFS) [MIM:154700]

880

Disease

Marfan syndrome (MFS) [MIM:154700]

882

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

884

Disease

Marfan syndrome (MFS) [MIM:154700]

890

Disease

Marfan syndrome (MFS) [MIM:154700]

908

Disease

Marfan syndrome (MFS) [MIM:154700]

910

Disease

Marfan syndrome (MFS) [MIM:154700]

913

Disease

Marfan syndrome (MFS) [MIM:154700]

921

Disease

Marfan syndrome (MFS) [MIM:154700]

926

Disease

Marfan syndrome (MFS) [MIM:154700]

937

Disease

954

Disease

974

Disease

Marfan syndrome (MFS) [MIM:154700]

976

Disease

Marfan syndrome (MFS) [MIM:154700]

984

Disease

Marfan syndrome (MFS) [MIM:154700]

985

Disease

Marfan syndrome (MFS) [MIM:154700]

996

Disease

Marfan syndrome (MFS) [MIM:154700]

1008

Disease

Marfan syndrome (MFS) [MIM:154700]

1013

Disease

Marfan syndrome (MFS) [MIM:154700]

1020

Disease

1023

Disease

Marfan syndrome (MFS) [MIM:154700]

1028

Disease

1032

Disease

Marfan syndrome (MFS) [MIM:154700]

1042

Disease

Marfan syndrome (MFS) [MIM:154700]

1043

Disease

Marfan syndrome (MFS) [MIM:154700]

1044

Disease

Marfan syndrome (MFS) [MIM:154700]

1048

Polymorphism

1053

Disease

Marfan syndrome (MFS) [MIM:154700]

1055

Disease

Marfan syndrome (MFS) [MIM:154700]

1058

Disease

Marfan syndrome (MFS) [MIM:154700]

1068

Disease

Marfan syndrome (MFS) [MIM:154700]

1072

Disease

Marfan syndrome (MFS) [MIM:154700]

1073

Disease

Marfan syndrome (MFS) [MIM:154700]

1074

Disease

Marfan syndrome (MFS) [MIM:154700]

1086

Disease

Marfan syndrome (MFS) [MIM:154700]

1088

Disease

Marfan syndrome (MFS) [MIM:154700]

1090

Disease

Marfan syndrome (MFS) [MIM:154700]

1101

Disease

Marfan syndrome (MFS) [MIM:154700]

1113

Polymorphism

1117

Disease

Marfan syndrome (MFS) [MIM:154700]

1127

Disease

Marfan syndrome (MFS) [MIM:154700]

1128

Unclassified

1129

Disease

Marfan syndrome (MFS) [MIM:154700]

1130

Disease

Marfan syndrome (MFS) [MIM:154700]

1131

Polymorphism

1137

Disease

Marfan syndrome (MFS) [MIM:154700]

1138

Disease

Marfan syndrome (MFS) [MIM:154700]

1148

Polymorphism

1153

Disease

Marfan syndrome (MFS) [MIM:154700]

1155

Disease

Marfan syndrome (MFS) [MIM:154700]

1158

Disease

Marfan syndrome (MFS) [MIM:154700]

1170

Disease

Marfan syndrome (MFS) [MIM:154700]

1171

Disease

Marfan syndrome (MFS) [MIM:154700]

1173

Disease

Marfan syndrome (MFS) [MIM:154700]

1182

Disease

Marfan syndrome (MFS) [MIM:154700]

1185

Disease

Marfan syndrome (MFS) [MIM:154700]

1199

Disease

Marfan syndrome (MFS) [MIM:154700]

1200

Disease

Marfan syndrome (MFS) [MIM:154700]

1219

Disease

Marfan syndrome (MFS) [MIM:154700]

1223

Disease

Marfan syndrome (MFS) [MIM:154700]

1242

Disease

Marfan syndrome (MFS) [MIM:154700]

1249

Disease

Marfan syndrome (MFS) [MIM:154700]

1261

Disease

Marfan syndrome (MFS) [MIM:154700]

1265

Disease

Marfan syndrome (MFS) [MIM:154700]

1278

Disease

Marfan syndrome (MFS) [MIM:154700]

1282

Polymorphism

1284

Disease

Marfan syndrome (MFS) [MIM:154700]

1307

Disease

Marfan syndrome (MFS) [MIM:154700]

1320

Disease

Marfan syndrome (MFS) [MIM:154700]

1325

Disease

Marfan syndrome (MFS) [MIM:154700]

1326

Disease

Marfan syndrome (MFS) [MIM:154700]

1333

Disease

Marfan syndrome (MFS) [MIM:154700]

1337

Disease

Marfan syndrome (MFS) [MIM:154700]

1339

Disease

Marfan syndrome (MFS) [MIM:154700]

1346

Disease

Marfan syndrome (MFS) [MIM:154700]

1350

Disease

Marfan syndrome (MFS) [MIM:154700]

1366

Disease

Marfan syndrome (MFS) [MIM:154700]

1374

Disease

Marfan syndrome (MFS) [MIM:154700]

1382

Disease

Marfan syndrome (MFS) [MIM:154700]

1389

Disease

Marfan syndrome (MFS) [MIM:154700]

1401

Disease

Marfan syndrome (MFS) [MIM:154700]

1402

Disease

Marfan syndrome (MFS) [MIM:154700]

1404

Disease

Marfan syndrome (MFS) [MIM:154700]

1406

Disease

1424

Disease

Marfan syndrome (MFS) [MIM:154700]

1427

Disease

Marfan syndrome (MFS) [MIM:154700]

1429

Disease

Marfan syndrome (MFS) [MIM:154700]

1431

Disease

Marfan syndrome (MFS) [MIM:154700]

1475

Disease

Marfan syndrome (MFS) [MIM:154700]

1481

Polymorphism

1485

Disease

Marfan syndrome (MFS) [MIM:154700]

1487

Disease

Marfan syndrome (MFS) [MIM:154700]

1489

Disease

Marfan syndrome (MFS) [MIM:154700]

1513

Disease

Marfan syndrome (MFS) [MIM:154700]

1528

Disease

Marfan syndrome (MFS) [MIM:154700]

1530

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

1564

Disease

Stiff skin syndrome (SSKS) [MIM:184900]

1570

Disease

Stiff skin syndrome (SSKS) [MIM:184900]

1576

Disease

Marfan syndrome (MFS) [MIM:154700]

1577

Disease

Stiff skin syndrome (SSKS) [MIM:184900]

1589

Disease

Marfan syndrome (MFS) [MIM:154700]

1594

Disease

Stiff skin syndrome (SSKS) [MIM:184900]

1610

Disease

Marfan syndrome (MFS) [MIM:154700]

1622

Disease

Marfan syndrome (MFS) [MIM:154700]

1631

Disease

Marfan syndrome (MFS) [MIM:154700]

1633

Disease

1642

Disease

Marfan syndrome (MFS) [MIM:154700]

1663

Disease

Marfan syndrome (MFS) [MIM:154700]

1672

Disease

Marfan syndrome (MFS) [MIM:154700]

1674

Disease

Marfan syndrome (MFS) [MIM:154700]

1696

Disease

Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]

1699

Disease

Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]

1700

Disease

Acromicric dysplasia (ACMICD) [MIM:102370]

1706

Disease

Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]

1714

Disease

Acromicric dysplasia (ACMICD) [MIM:102370]

1719

Disease

Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]

1720

Disease

Marfan syndrome (MFS) [MIM:154700]

1722

Disease

Acromicric dysplasia (ACMICD) [MIM:102370]

1726

Disease

Acromicric dysplasia (ACMICD) [MIM:102370]

1728

Disease

Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]

1733

Disease

Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]

1750

Disease

Acromicric dysplasia (ACMICD) [MIM:102370]

1758

Disease

Acromicric dysplasia (ACMICD) [MIM:102370]

1762

Disease

Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]

1770

Disease

Marfan syndrome (MFS) [MIM:154700]

1777

Disease

1790

Disease

Marfan syndrome (MFS) [MIM:154700]

1791

Disease

Marfan syndrome (MFS) [MIM:154700]

1793

Disease

Marfan syndrome (MFS) [MIM:154700]

1796

Disease

Marfan syndrome (MFS) [MIM:154700]

1806

Disease

Marfan syndrome (MFS) [MIM:154700]

1811

Disease

Marfan syndrome (MFS) [MIM:154700]

1812

Disease

Marfan syndrome (MFS) [MIM:154700]

1826

Disease

Marfan syndrome (MFS) [MIM:154700]

1830

Disease

Marfan syndrome (MFS) [MIM:154700]

1833

Disease

Marfan syndrome (MFS) [MIM:154700]

1835

Disease

Marfan syndrome (MFS) [MIM:154700]

1837

Disease

Marfan syndrome (MFS) [MIM:154700]

1838

Disease

Marfan syndrome (MFS) [MIM:154700]

1847

Disease

Marfan syndrome (MFS) [MIM:154700]

1860

Disease

Marfan syndrome (MFS) [MIM:154700]

1865

Disease

Marfan syndrome (MFS) [MIM:154700]

1876

Disease

Marfan syndrome (MFS) [MIM:154700]

1879

Disease

Marfan syndrome (MFS) [MIM:154700]

1887

Disease

Marfan syndrome (MFS) [MIM:154700]

1893

Disease

Marfan syndrome (MFS) [MIM:154700]

1894

Disease

Marfan syndrome (MFS) [MIM:154700]

1895

Disease

Marfan syndrome (MFS) [MIM:154700]

1900

Disease

Marfan syndrome (MFS) [MIM:154700]

1907

Disease

1908

Disease

Marfan syndrome (MFS) [MIM:154700]

1909

Disease

Marfan syndrome (MFS) [MIM:154700]

1915

Disease

Marfan syndrome (MFS) [MIM:154700]

1919

Disease

Marfan syndrome (MFS) [MIM:154700]

1928

Disease

Marfan syndrome (MFS) [MIM:154700]

1930

Disease

1934

Disease

Marfan syndrome (MFS) [MIM:154700]

1971

Disease

Marfan syndrome (MFS) [MIM:154700]

1976

Disease

Marfan syndrome (MFS) [MIM:154700]

1977

Disease

Marfan syndrome (MFS) [MIM:154700]

1984

Disease

Marfan syndrome (MFS) [MIM:154700]

1987

Disease

Marfan syndrome (MFS) [MIM:154700]

1998

Disease

Marfan syndrome (MFS) [MIM:154700]

2018

Polymorphism

2038

Disease

Marfan syndrome (MFS) [MIM:154700]

2053

Polymorphism

2084

Disease

Marfan syndrome (MFS) [MIM:154700]

2085

Disease

Marfan syndrome (MFS) [MIM:154700]

2099

Disease

Marfan syndrome (MFS) [MIM:154700]

2101

Polymorphism

2105

Disease

2111

Disease

Marfan syndrome (MFS) [MIM:154700]

2113

Polymorphism

2118

Disease

Marfan syndrome (MFS) [MIM:154700]

2127

Disease

Marfan syndrome (MFS) [MIM:154700]

2130

Disease

Marfan syndrome (MFS) [MIM:154700]

2136

Disease

2142

Disease

Marfan syndrome (MFS) [MIM:154700]

2144

Disease

Marfan syndrome (MFS) [MIM:154700]

2145

Disease

Marfan syndrome (MFS) [MIM:154700]

2151

Disease

Marfan syndrome (MFS) [MIM:154700]

2153

Disease

Marfan syndrome (MFS) [MIM:154700]

2154

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

2160

Disease

Marfan syndrome (MFS) [MIM:154700]

2166

Disease

Marfan syndrome (MFS) [MIM:154700]

2170

Polymorphism

2185

Disease

Marfan syndrome (MFS) [MIM:154700]

2195

Disease

2221

Disease

Marfan syndrome (MFS) [MIM:154700]

2223

Disease

Marfan syndrome (MFS) [MIM:154700]

2224

Disease

2232

Disease

Marfan syndrome (MFS) [MIM:154700]

2234

Disease

2247

Disease

Marfan syndrome (MFS) [MIM:154700]

2250

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

2251

Disease

Marfan syndrome (MFS) [MIM:154700]

2258

Disease

Marfan syndrome (MFS) [MIM:154700]

2269

Disease

Marfan syndrome (MFS) [MIM:154700]

2272

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

2273

Disease

2274

Disease

Marfan syndrome (MFS) [MIM:154700]

2278

Polymorphism

2282

Disease

Marfan syndrome (MFS) [MIM:154700]

2284

Disease

Marfan syndrome (MFS) [MIM:154700]

2289

Disease

2302

Disease

2307

Disease

Marfan syndrome (MFS) [MIM:154700]

2318

Disease

Marfan syndrome (MFS) [MIM:154700]

2329

Polymorphism

2335

Disease

Marfan syndrome (MFS) [MIM:154700]

2339

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

2365

Disease

2385

Disease

Marfan syndrome (MFS) [MIM:154700]

2406

Disease

Marfan syndrome (MFS) [MIM:154700]

2442

Disease

Marfan syndrome (MFS) [MIM:154700]

2447

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

2448

Disease

Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]

2470

Disease

Marfan syndrome (MFS) [MIM:154700]

2474

Disease

Marfan syndrome (MFS) [MIM:154700]

2489

Disease

Marfan syndrome (MFS) [MIM:154700]

2500

Disease

Marfan syndrome (MFS) [MIM:154700]

2511

Disease

Marfan syndrome (MFS) [MIM:154700]

2516

Disease

2520

Disease

Marfan syndrome (MFS) [MIM:154700]

2522

Disease

Marfan syndrome (MFS) [MIM:154700]

2526

Disease

2535

Disease

Marfan syndrome (MFS) [MIM:154700]

2536

Disease

Marfan syndrome (MFS) [MIM:154700]

2541

Disease

2554

Disease

2555

Disease

Marfan syndrome (MFS) [MIM:154700]

2561

Disease

Marfan syndrome (MFS) [MIM:154700]

2570

Disease

Marfan syndrome (MFS) [MIM:154700]

2571

Disease

Marfan syndrome (MFS) [MIM:154700]

2577

Disease

Marfan syndrome (MFS) [MIM:154700]

2581

Disease

Marfan syndrome (MFS) [MIM:154700]

2585

Disease

Marfan syndrome (MFS) [MIM:154700]

2592

Disease

Marfan syndrome (MFS) [MIM:154700]

2605

Disease

Marfan syndrome (MFS) [MIM:154700]

2610

Disease

Marfan syndrome (MFS) [MIM:154700]

2618

Unclassified

Marfan syndrome (MFS) [MIM:154700]

2623

Disease

Marfan syndrome (MFS) [MIM:154700]

2624

Disease

Marfan syndrome (MFS) [MIM:154700]

2627

Disease

Marfan syndrome (MFS) [MIM:154700]

2629

Disease

Marfan syndrome (MFS) [MIM:154700]

2646

Disease

Marfan syndrome (MFS) [MIM:154700]

2652

Disease

Marfan syndrome (MFS) [MIM:154700]

2663

Disease

Marfan syndrome (MFS) [MIM:154700]

2668

Disease

Marfan syndrome (MFS) [MIM:154700]

2680

Disease

Marfan syndrome (MFS) [MIM:154700]

2708

Disease

Marfan syndrome (MFS) [MIM:154700]

2726

Disease

2741

Disease

Marfanoid-progeroid-lipodystrophy syndrome (MFLS) [MIM:616914]

2780

Disease

2793

Disease