Results for the protein: P53420

Results for the Protein: P53420

259016360

1286

COL4A4

NCBI, UniProt

CO4A4_HUMAN RecName: Full=Collagen alpha-4(IV) chain; Flags: Precursor

Known Diseases associated with this Protein:
  ALPORT SYNDROME, AUTOSOMAL RECESSIVE
  ALPORT SYNDROME, AUTOSOMAL RECESSIVE (APSAR)
  HEMATURIA, BENIGN FAMILIAL
  HEMATURIA, BENIGN FAMILIAL (BFH)

15

15

7

13

10

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Default View: Collagen - pfam01391 C4 - smart00111 C4 - pfam01413	Swiss-Prot Protein: P53420 Identical to: NP_000083 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	3.3e-09	125	195
Collagen	pfam01391	6.2e-12	196	257
Collagen	pfam01391	9.4e-12	273	334
Collagen	pfam01391	3.6e-10	335	399
Collagen	pfam01391	1.4e-10	405	474
Collagen	pfam01391	9.6e-10	475	538
Collagen	pfam01391	1.6e-12	539	604
Collagen	pfam01391	3.4e-10	610	668
Collagen	pfam01391	1.2e-10	674	736
Collagen	pfam01391	3.4e-11	745	806
Collagen	pfam01391	6e-12	807	866
Collagen	pfam01391	8e-13	870	929
Collagen	pfam01391	3.7e-12	933	998
Collagen	pfam01391	1.4e-11	999	1059
Collagen	pfam01391	3.9e-11	1066	1129
Collagen	pfam01391	2.9e-14	1133	1192
Collagen	pfam01391	1e-09	1198	1253
Collagen	pfam01391	1.4e-11	1258	1321
Collagen	pfam01391	8.6e-11	1322	1391
Collagen	pfam01391	2.5e-11	1395	1456
C4	pfam01413	7.7e-67	1465	1572
C4	pfam01413	1.2e-72	1573	1689
C4	smart00111	1.5e-57	1465	1572
C4	smart00111	9.4e-62	1573	1689

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs75875272	Polymorphism	p.ALA931THR	N/A
dbSNP	rs79143859	Polymorphism	p.ALA1078VAL	N/A
Swiss-Prot	VAR_008150	Polymorphism	p.GLU570GLN	N/A
dbSNP	rs35998949	Polymorphism	p.GLU594GLY	N/A
dbSNP	rs1800516	Polymorphism	p.GLY545ALA	N/A
Swiss-Prot	VAR_031624	Disease	p.GLY960ARG	Hematuria, benign familial (BFH)
Swiss-Prot	VAR_031623	Disease	p.GLY116GLU	Hematuria, benign familial (BFH)
Swiss-Prot	VAR_001912	Disease	p.GLY897GLU	Hematuria, benign familial (BFH)
Swiss-Prot	VAR_031625	Disease	p.GLY999GLU	Hematuria, benign familial (BFH)
Swiss-Prot	VAR_001913	Disease	p.GLY1201SER	Alport syndrome, autosomal recessive (APSAR)
Swiss-Prot	VAR_008153	Disease	p.GLY1030VAL	Alport syndrome, autosomal recessive (APSAR)
dbSNP	rs16823264	Polymorphism	p.ILE6THR	N/A
dbSNP	rs80243096	Polymorphism	p.ILE967VAL	N/A
dbSNP	rs77104306	Polymorphism	p.MET1552ILE	N/A
dbSNP	rs1800517	Polymorphism	p.PRO1004LEU	N/A
Swiss-Prot	VAR_031626	Disease	p.PRO1132LEU	Hematuria, benign familial (BFH)
Swiss-Prot	VAR_008155	Disease	p.PRO1572LEU	Alport syndrome, autosomal recessive (APSAR)
dbSNP	rs36121515	Polymorphism	p.PRO759LEU	N/A
Swiss-Prot	VAR_008154	Polymorphism	p.PRO1402SER	N/A
dbSNP	rs2229814	Polymorphism	p.PRO482SER	N/A
dbSNP	rs3752895	Polymorphism	p.SER1403PRO	N/A
dbSNP	rs34236495	Polymorphism	p.VAL670ILE	N/A
dbSNP	rs2229813	Polymorphism	p.VAL1327MET	N/A
OMIM	120131.0004	Disease	p.ARG1377TER	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
OMIM	120131.0005	Disease	p.CYS1641TER	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
OMIM	120131.0008	Disease	p.GLY960ARG	HEMATURIA, BENIGN FAMILIAL
OMIM	120131.0003	Disease	p.GLY897GLU	HEMATURIA, BENIGN FAMILIAL
OMIM	120131.0001	Disease	p.GLY1201SER	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
OMIM	120131.0006	Disease	p.PRO1572LEU	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
OMIM	120131.0002	Disease	p.SER1238TER	ALPORT SYNDROME, AUTOSOMAL RECESSIVE

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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