Results for the protein: P02461

Results for the Protein: P02461

124056490

1281

COL3A1

NCBI, UniProt

CO3A1_HUMAN RecName: Full=Collagen alpha-1(III) chain; Flags: Precursor

Known Diseases associated with this Protein:
  AORTIC ANEURYSM, FAMILIAL ABDOMINAL (AAA)
  EHLERS-DANLOS SYNDROME 3 (EDS3)
  EHLERS-DANLOS SYNDROME 4 (EDS4)

101

13

0

0

114

Tips:

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Default View: VWC - smart00214 VWC - pfam00093 Collagen - pfam01391 COLFI - smart00038 COLFI - pfam01410	Swiss-Prot Protein: P02461 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	5.6e-07	98	149
Collagen	pfam01391	1.3e-16	168	227
Collagen	pfam01391	3.1e-20	234	293
Collagen	pfam01391	3.4e-17	294	353
Collagen	pfam01391	8.3e-17	354	413
Collagen	pfam01391	5.6e-17	414	473
Collagen	pfam01391	7.7e-16	474	533
Collagen	pfam01391	1.8e-17	534	593
Collagen	pfam01391	1.7e-12	594	653
Collagen	pfam01391	3.6e-12	654	713
Collagen	pfam01391	2.6e-14	714	773
Collagen	pfam01391	3.7e-14	777	836
Collagen	pfam01391	6.5e-13	837	896
Collagen	pfam01391	3.8e-16	897	956
Collagen	pfam01391	3.4e-16	957	1016
Collagen	pfam01391	5.7e-15	1017	1076
Collagen	pfam01391	1.6e-20	1077	1136
Collagen	pfam01391	1.4e-17	1137	1196
COLFI	pfam01410	1.5e-154	1248	1465
VWC	smart00214	1.7e-21	32	88
COLFI	smart00038	1.5e-168	1231	1466

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_055666	Polymorphism	p.ALA679THR	N/A
Swiss-Prot	VAR_001778	Polymorphism	p.ALA698THR	N/A
Swiss-Prot	VAR_035739	Polymorphism	p.ARG1434CYS	N/A
Swiss-Prot	VAR_001797	Disease	p.GLY1104ALA	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011143	Disease	p.GLY972ALA	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011156	Disease	p.GLY1164ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011158	Disease	p.GLY1173ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011159	Disease	p.GLY1179ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001807	Disease	p.GLY1188ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001769	Disease	p.GLY201ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011103	Disease	p.GLY240ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011108	Disease	p.GLY252ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011111	Disease	p.GLY264ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_037007	Disease	p.GLY297ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001771	Polymorphism	p.GLY303ARG	N/A
Swiss-Prot	VAR_011115	Disease	p.GLY345ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011116	Disease	p.GLY417ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011117	Disease	p.GLY444ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011119	Disease	p.GLY501ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001772	Disease	p.GLY540ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011124	Disease	p.GLY636ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011128	Disease	p.GLY699ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001779	Disease	p.GLY726ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001782	Disease	p.GLY786ARG	Aortic aneurysm, familial abdominal (AAA)
Swiss-Prot	VAR_001784	Disease	p.GLY828ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001786	Disease	p.GLY936ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011145	Disease	p.GLY999ARG	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011149	Disease	p.GLY1044ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001793	Disease	p.GLY1050ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011151	Disease	p.GLY1089ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011152	Disease	p.GLY1098ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001800	Disease	p.GLY1170ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001804	Disease	p.GLY1185ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011095	Disease	p.GLY183ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011098	Disease	p.GLY204ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011100	Disease	p.GLY210ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011105	Disease	p.GLY249ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011107	Disease	p.GLY252ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011114	Disease	p.GLY327ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011123	Disease	p.GLY588ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011126	Disease	p.GLY660ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001777	Disease	p.GLY666ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011135	Disease	p.GLY882ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011136	Disease	p.GLY900ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001785	Disease	p.GLY909ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001788	Disease	p.GLY939ASP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011148	Disease	p.GLY1035CYS	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001768	Disease	p.GLY183CYS	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011101	Disease	p.GLY219CYS	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001781	Disease	p.GLY762CYS	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011133	Disease	p.GLY852CYS	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011140	Disease	p.GLY924CYS	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011146	Disease	p.GLY1011GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001792	Disease	p.GLY1014GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001796	Disease	p.GLY1101GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011155	Disease	p.GLY1164GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001801	Disease	p.GLY1173GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001803	Disease	p.GLY1182GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001806	Disease	p.GLY1188GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001770	Disease	p.GLY228GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011118	Disease	p.GLY489GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_055665	Polymorphism	p.GLY534GLU	N/A
Swiss-Prot	VAR_011121	Disease	p.GLY549GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011122	Disease	p.GLY552GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001773	Disease	p.GLY567GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011125	Disease	p.GLY657GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001780	Disease	p.GLY756GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011137	Disease	p.GLY903GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011139	Disease	p.GLY918GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011141	Disease	p.GLY942GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001791	Disease	p.GLY996GLU	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001798	Polymorphism	p.GLY1164SER	N/A
Swiss-Prot	VAR_011096	Disease	p.GLY183SER	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011099	Disease	p.GLY204SER	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_035738	Polymorphism	p.GLY420SER	N/A
Swiss-Prot	VAR_001774	Disease	p.GLY582SER	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011129	Disease	p.GLY738SER	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001783	Disease	p.GLY804SER	Ehlers-Danlos syndrome 3 (EDS3)
Swiss-Prot	VAR_001787	Disease	p.GLY936SER	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001789	Disease	p.GLY957SER	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011144	Disease	p.GLY984THR	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011132	Disease	p.GLY828TRP	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011147	Disease	p.GLY1032VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011150	Disease	p.GLY1050VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001794	Disease	p.GLY1071VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001795	Disease	p.GLY1077VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011153	Disease	p.GLY1098VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011154	Disease	p.GLY1161VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001799	Disease	p.GLY1167VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011157	Disease	p.GLY1170VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001802	Disease	p.GLY1176VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001805	Disease	p.GLY1185VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011097	Disease	p.GLY192VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011102	Disease	p.GLY225VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011104	Disease	p.GLY243VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011106	Disease	p.GLY249VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011109	Disease	p.GLY252VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011110	Disease	p.GLY255VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011112	Disease	p.GLY267VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011113	Disease	p.GLY321VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011120	Disease	p.GLY519VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011130	Disease	p.GLY738VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011131	Disease	p.GLY744VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011134	Disease	p.GLY879VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011138	Disease	p.GLY909VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_001790	Disease	p.GLY960VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_011142	Disease	p.GLY966VAL	Ehlers-Danlos syndrome 4 (EDS4)
Swiss-Prot	VAR_030115	Polymorphism	p.HIS1353GLN	N/A
Swiss-Prot	VAR_020012	Polymorphism	p.ILE1205VAL	N/A
Swiss-Prot	VAR_001767	Disease	p.LEU169PHE	Aortic aneurysm, familial abdominal (AAA)
Swiss-Prot	VAR_055667	Polymorphism	p.PRO686ALA	N/A
Swiss-Prot	VAR_001776	Polymorphism	p.PRO635LEU	N/A
Swiss-Prot	VAR_001775	Polymorphism	p.PRO602THR	N/A
Swiss-Prot	VAR_011127	Polymorphism	p.PRO668THR	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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