Results for the protein: P29400

Results for the Protein: P29400

461675

1287

COL4A5

NCBI, UniProt

CO4A5_HUMAN RecName: Full=Collagen alpha-5(IV) chain; Flags: Precursor

Known Diseases associated with this Protein:
ALPORT SYNDROME, X-LINKED (APSX)

144

7

0

0

151

Tips:

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Default View: C4 - smart00111	Swiss-Prot Protein: P29400 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C4	smart00111	4.7e-78	1571	1684

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001967	Disease	p.ALA1498ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001933	Polymorphism	p.ALA430ASP	N/A
Swiss-Prot	VAR_001963	Disease	p.ARG1410CYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001965	Disease	p.ARG1422CYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001970	Disease	p.ARG1563GLN	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001974	Disease	p.ARG1677GLN	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011288	Disease	p.ARG1511HIS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011290	Disease	p.ARG1677PRO	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011289	Disease	p.CYS1567ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001971	Disease	p.CYS1564SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011291	Disease	p.CYS1678TRP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011248	Disease	p.GLU633LYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011264	Disease	p.GLY1006ALA	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008015	Disease	p.GLY1486ALA	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001928	Disease	p.GLY374ALA	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001941	Disease	p.GLY567ALA	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001944	Disease	p.GLY638ALA	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008000	Disease	p.GLY669ALA	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011272	Disease	p.GLY1066ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008008	Disease	p.GLY1107ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011275	Disease	p.GLY1158ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008009	Disease	p.GLY1161ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001959	Disease	p.GLY1182ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011278	Disease	p.GLY1196ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008010	Disease	p.GLY1211ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001917	Disease	p.GLY174ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001918	Disease	p.GLY177ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011221	Disease	p.GLY192ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001919	Disease	p.GLY216ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011223	Disease	p.GLY230ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011225	Disease	p.GLY264ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011226	Disease	p.GLY292ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011229	Disease	p.GLY319ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001924	Disease	p.GLY325ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011231	Disease	p.GLY415ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_007993	Disease	p.GLY472ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_007994	Disease	p.GLY545ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011238	Disease	p.GLY558ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_007996	Disease	p.GLY561ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_007997	Disease	p.GLY579ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011242	Disease	p.GLY609ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001945	Disease	p.GLY653ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001950	Disease	p.GLY796ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011253	Disease	p.GLY802ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011256	Disease	p.GLY822ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001951	Disease	p.GLY852ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001953	Disease	p.GLY869ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001954	Disease	p.GLY872ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008006	Disease	p.GLY878ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011274	Disease	p.GLY1086ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001957	Disease	p.GLY1143ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008011	Disease	p.GLY1220ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011281	Disease	p.GLY1229ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011282	Disease	p.GLY1244ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008014	Disease	p.GLY1442ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001972	Disease	p.GLY1596ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011227	Disease	p.GLY295ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001929	Disease	p.GLY383ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001932	Disease	p.GLY409ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001937	Disease	p.GLY494ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011237	Disease	p.GLY524ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001914	Disease	p.GLY54ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011239	Disease	p.GLY573ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011245	Disease	p.GLY624ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011246	Disease	p.GLY629ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011247	Disease	p.GLY632ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_007998	Disease	p.GLY635ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011249	Disease	p.GLY681ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008002	Disease	p.GLY743ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001949	Disease	p.GLY772ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011262	Disease	p.GLY947ASP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011279	Disease	p.GLY1205CYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001960	Disease	p.GLY1241CYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011220	Disease	p.GLY177CYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011236	Disease	p.GLY497CYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001939	Disease	p.GLY521CYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011244	Disease	p.GLY621CYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011261	Disease	p.GLY941CYS	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011266	Disease	p.GLY1015GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011271	Disease	p.GLY1045GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011280	Disease	p.GLY1211GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011284	Disease	p.GLY1261GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001915	Disease	p.GLY129GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011224	Disease	p.GLY239GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001923	Disease	p.GLY325GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001925	Disease	p.GLY365GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001927	Disease	p.GLY371GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001930	Disease	p.GLY400GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011232	Disease	p.GLY420GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011234	Disease	p.GLY423GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001936	Disease	p.GLY466GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011235	Disease	p.GLY491GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011240	Disease	p.GLY579GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008001	Disease	p.GLY687GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011250	Disease	p.GLY722GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001948	Disease	p.GLY740GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008003	Disease	p.GLY808GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008005	Disease	p.GLY852GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001952	Disease	p.GLY866GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011260	Disease	p.GLY911GLU	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011268	Disease	p.GLY1030SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011270	Disease	p.GLY1039SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011273	Disease	p.GLY1066SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_007991	Disease	p.GLY114SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001958	Disease	p.GLY1143SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011276	Disease	p.GLY1167SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011277	Disease	p.GLY1170SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011283	Disease	p.GLY1252SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001961	Disease	p.GLY1270SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008012	Disease	p.GLY1333SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011285	Disease	p.GLY1357SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001966	Disease	p.GLY1451SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001920	Disease	p.GLY219SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011228	Disease	p.GLY298SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001940	Disease	p.GLY521SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_007999	Disease	p.GLY638SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001964	Disease	p.GLY1421TRP	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011265	Disease	p.GLY1006VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011267	Disease	p.GLY1015VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011269	Disease	p.GLY1036VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001956	Disease	p.GLY1104VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001916	Disease	p.GLY129VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001962	Disease	p.GLY1379VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008013	Disease	p.GLY1427VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011222	Disease	p.GLY204VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001921	Disease	p.GLY289VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001922	Disease	p.GLY292VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_007992	Disease	p.GLY331VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001931	Disease	p.GLY406VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011230	Disease	p.GLY412VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011233	Disease	p.GLY420VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_007995	Disease	p.GLY545VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011241	Disease	p.GLY603VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001942	Disease	p.GLY609VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001943	Disease	p.GLY638VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001947	Disease	p.GLY684VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011255	Disease	p.GLY811VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011259	Disease	p.GLY902VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011263	Disease	p.GLY953VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001934	Polymorphism	p.ILE444SER	N/A
Swiss-Prot	VAR_001973	Disease	p.LEU1649ARG	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011286	Polymorphism	p.LEU1428MET	N/A
Swiss-Prot	VAR_001946	Polymorphism	p.LYS664ASN	N/A
Swiss-Prot	VAR_011258	Disease	p.MET898VAL	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_008016	Polymorphism	p.PRO1559ALA	N/A
Swiss-Prot	VAR_011251	Polymorphism	p.PRO739ALA	N/A
Swiss-Prot	VAR_011243	Polymorphism	p.PRO619SER	N/A
Swiss-Prot	VAR_011252	Disease	p.PRO739SER	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001968	Disease	p.PRO1517THR	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_011287	Disease	p.SER1488PHE	Alport syndrome, X-linked (APSX)
Swiss-Prot	VAR_001969	Disease	p.TRP1538SER	Alport syndrome, X-linked (APSX)

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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