Results for the protein: P08572

Results for the Protein: P08572

143811377

1284

COL4A2

NCBI, UniProt

CO4A2_HUMAN RecName: Full=Collagen alpha-2(IV) chain; Contains: RecName: Full=Canstatin; Flags: Precursor

Known Diseases associated with this Protein:
  HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
  PORENCEPHALY 2
  PORENCEPHALY 2 (POREN2)

7

11

5

3

10

Tips:

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Default View: Collagen - pfam01391 C4 - smart00111 C4 - pfam01413	Swiss-Prot Protein: P08572 Identical to: NP_001837 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	1.6e-11	115	174
Collagen	pfam01391	1e-10	187	251
Collagen	pfam01391	7.1e-12	282	346
Collagen	pfam01391	1e-09	360	421
Collagen	pfam01391	4.2e-13	423	483
Collagen	pfam01391	3.5e-12	493	550
Collagen	pfam01391	6.4e-08	556	600
Collagen	pfam01391	2.6e-11	601	659
Collagen	pfam01391	1.4e-12	684	743
Collagen	pfam01391	1.2e-11	744	808
Collagen	pfam01391	2.6e-13	809	868
Collagen	pfam01391	2.2e-14	869	928
Collagen	pfam01391	8.5e-11	932	1002
Collagen	pfam01391	5.8e-12	1015	1075
Collagen	pfam01391	1.6e-11	1099	1154
Collagen	pfam01391	4.9e-13	1155	1214
Collagen	pfam01391	4.4e-09	1217	1273
Collagen	pfam01391	3.4e-11	1278	1337
Collagen	pfam01391	4.3e-12	1341	1407
Collagen	pfam01391	1e-10	1411	1476
C4	pfam01413	2.5e-69	1489	1596
C4	pfam01413	9.1e-78	1597	1711
C4	smart00111	2e-59	1489	1596
C4	smart00111	1.9e-72	1597	1711

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067558	Polymorphism	p.ALA1690THR	N/A
Swiss-Prot	VAR_067553	Polymorphism	p.ARG1109GLN	N/A
dbSNP	rs7990383	Polymorphism	p.ARG517LYS	N/A
Swiss-Prot	VAR_067555	Polymorphism	p.GLN1150LYS	N/A
Swiss-Prot	VAR_067554	Polymorphism	p.GLU1123GLY	N/A
dbSNP	rs3803230	Polymorphism	p.GLY683ALA	N/A
Swiss-Prot	VAR_067556	Polymorphism	p.GLY1389ARG	N/A
Swiss-Prot	VAR_067838	Disease	p.GLY1152ASP	Porencephaly 2 (POREN2)
Swiss-Prot	VAR_067837	Disease	p.GLY1037GLU	Porencephaly 2 (POREN2)
Swiss-Prot	VAR_067552	Polymorphism	p.LYS701ARG	N/A
dbSNP	rs9583500	Polymorphism	p.PRO718SER	N/A
Swiss-Prot	VAR_067557	Polymorphism	p.VAL1399ILE	N/A
Swiss-Prot	VAR_067551	Polymorphism	p.VAL192PHE	N/A
OMIM	120090.0005	Disease	p.ALA1690THR	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
OMIM	120090.0004	Disease	p.GLN1150LYS	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
OMIM	120090.0003	Disease	p.GLU1123GLY	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
OMIM	120090.0001	Disease	p.GLY1152ASP	PORENCEPHALY 2
OMIM	120090.0002	Disease	p.GLY1037GLU	PORENCEPHALY 2

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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