Results for the protein: P02462

Results for the Protein: P02462

125987809

1282

COL4A1

NCBI, UniProt

CO4A1_HUMAN RecName: Full=Collagen alpha-1(IV) chain; Contains: RecName: Full=Arresten; Flags: Precursor

Known Diseases associated with this Protein:
  ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
  BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY
  BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
  BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE (BSVDH)
  HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
  HEREDITARY ANGIOPATHY WITH NEPHROPATHY ANEURYSMS AND MUSCLE CRAMPS (HANAC)
  PORENCEPHALY 1
  PORENCEPHALY 1 (POREN1)

30

4

15

1

18

Tips:

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Default View: Collagen - pfam01391 C4 - smart00111 C4 - pfam01413	Swiss-Prot Protein: P02462 Identical to: NP_001836 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	3.1e-12	103	162
Collagen	pfam01391	1.3e-11	182	246
Collagen	pfam01391	1.4e-11	270	331
Collagen	pfam01391	3.7e-12	338	399
Collagen	pfam01391	1.9e-10	403	466
Collagen	pfam01391	1.1e-12	473	530
Collagen	pfam01391	1.8e-11	547	606
Collagen	pfam01391	1e-10	609	672
Collagen	pfam01391	5.2e-12	673	731
Collagen	pfam01391	1.8e-12	740	799
Collagen	pfam01391	2.1e-11	802	863
Collagen	pfam01391	1.8e-11	864	923
Collagen	pfam01391	4.7e-12	927	995
Collagen	pfam01391	2.1e-12	996	1055
Collagen	pfam01391	2.2e-13	1058	1117
Collagen	pfam01391	5.6e-11	1118	1174
Collagen	pfam01391	7.2e-12	1177	1238
Collagen	pfam01391	5.4e-13	1239	1298
Collagen	pfam01391	5e-12	1302	1365
Collagen	pfam01391	5.3e-15	1366	1425
C4	pfam01413	5.4e-74	1445	1554
C4	pfam01413	8.3e-77	1555	1668
C4	smart00111	3.5e-67	1445	1554
C4	smart00111	2.6e-79	1555	1668

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3742207	Polymorphism	p.GLN1334HIS	N/A
Swiss-Prot	VAR_030031	Disease	p.GLY1236ARG	Porencephaly 1 (POREN1)
Swiss-Prot	VAR_030032	Disease	p.GLY1423ARG	Porencephaly 1 (POREN1)
Swiss-Prot	VAR_064499	Disease	p.GLY1580ARG	Porencephaly 1 (POREN1)
Swiss-Prot	VAR_064493	Disease	p.GLY498ARG	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)
Swiss-Prot	VAR_064494	Disease	p.GLY510ARG	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)
Swiss-Prot	VAR_044160	Disease	p.GLY519ARG	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)
Swiss-Prot	VAR_064497	Disease	p.GLY755ARG	Brain small vessel disease with hemorrhage (BSVDH)
Swiss-Prot	VAR_064498	Disease	p.GLY805ARG	Brain small vessel disease with hemorrhage (BSVDH)
Swiss-Prot	VAR_030030	Disease	p.GLY1130ASP	Porencephaly 1 (POREN1)
Swiss-Prot	VAR_064496	Disease	p.GLY720ASP	Brain small vessel disease with hemorrhage (BSVDH)
Swiss-Prot	VAR_044161	Disease	p.GLY528GLU	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)
Swiss-Prot	VAR_030028	Disease	p.GLY562GLU	Brain small vessel disease with hemorrhage (BSVDH)
Swiss-Prot	VAR_064495	Disease	p.GLY525LEU	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)
Swiss-Prot	VAR_030029	Disease	p.GLY749SER	Porencephaly 1 (POREN1)
Swiss-Prot	VAR_044159	Disease	p.GLY498VAL	Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)
Swiss-Prot	VAR_044158	Polymorphism	p.PRO304LEU	N/A
Swiss-Prot	VAR_030511	Polymorphism	p.THR555PRO	N/A
Swiss-Prot	VAR_030027	Polymorphism	p.VAL7LEU	N/A
OMIM	120130.0016	Disease	p.ARG538GLY	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
OMIM	120130.0001	Disease	p.GLY1236ARG	PORENCEPHALY 1
OMIM	120130.0006	Disease	p.GLY1423ARG	PORENCEPHALY 1
OMIM	120130.0011	Disease	p.GLY1580ARG	PORENCEPHALY 1
OMIM	120130.0012	Disease	p.GLY498ARG	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
OMIM	120130.0013	Disease	p.GLY510ARG	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
OMIM	120130.0008	Disease	p.GLY519ARG	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
OMIM	120130.0005	Disease	p.GLY1130ASP	PORENCEPHALY 1
OMIM	120130.0010	Disease	p.GLY720ASP	BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY
OMIM	120130.0009	Disease	p.GLY528GLU	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
OMIM	120130.0003	Disease	p.GLY562GLU	BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
OMIM	120130.0014	Disease	p.GLY525LEU	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
OMIM	120130.0002	Disease	p.GLY749SER	PORENCEPHALY 1
OMIM	120130.0007	Disease	p.GLY498VAL	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
OMIM	120130.0015	Disease	p.PRO352LEU	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO

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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