Results for the protein: Q04671

Results for the Protein: Q04671

90110050

4948

OCA2

NCBI, UniProt

P_HUMAN RecName: Full=P protein; AltName: Full=Melanocyte-specific transporter protein; AltName: Full=Pink-eyed dilution protein homolog

Known Diseases associated with this Protein:
  ALBINISM, OCULOCUTANEOUS, 2 (OCA2)
  ALBINISM, OCULOCUTANEOUS, TYPE II
  SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, INCLUDED
  SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

46

20

9

5

52

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: CitT - COG0471 ArsB - COG1055 ArsB_permease - cd01118 SLC13_permease - cd01115 P_permease - cd01116 CitMHS - pfam03600 YbiR_permease - cd01117 ArsB_NhaD_permease - cd00625	Swiss-Prot Protein: Q04671 Identical to: NP_000266 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ArsB	COG1055	3.2e-87	327	831
ArsB_permease	cd01118	1e-07	333	829
SLC13_permease	cd01115	1.6e-08	335	832
P_permease	cd01116	4.8e-277	338	829
YbiR_permease	cd01117	2.9e-28	339	828
ArsB_NhaD_permease	cd00625	4.2e-161	342	828
CitMHS	pfam03600	4.3e-77	338	776

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006121	Polymorphism	p.ALA257ASP	N/A
Swiss-Prot	VAR_006143	Disease	p.ALA724PRO	Albinism, oculocutaneous, 2 (OCA2)
dbSNP	rs74653330	Polymorphism	p.ALA481THR	N/A
Swiss-Prot	VAR_007940	Disease	p.ALA481THR	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_036468	Polymorphism	p.ALA773THR	N/A
Swiss-Prot	VAR_020626	Disease	p.ALA334VAL	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_032095	Polymorphism	p.ALA336VAL	N/A
Swiss-Prot	VAR_006124	Disease	p.ALA368VAL	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006146	Disease	p.ALA787VAL	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020636	Disease	p.ARG720CYS	Albinism, oculocutaneous, 2 (OCA2)
dbSNP	rs1800407	Polymorphism	p.ARG419GLN	N/A
Swiss-Prot	VAR_020625	Disease	p.ARG290GLY	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_032097	Polymorphism	p.ARG560HIS	N/A
Swiss-Prot	VAR_020622	Disease	p.ARG10TRP	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_032094	Polymorphism	p.ARG266TRP	N/A
dbSNP	rs1800401	Polymorphism	p.ARG305TRP	N/A
Swiss-Prot	VAR_006129	Disease	p.ARG419TRP	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_043700	Disease	p.ASN476ASP	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006135	Disease	p.ASN489ASP	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006119	Disease	p.CYS112PHE	Albinism, oculocutaneous, 2 (OCA2)
dbSNP	rs61742223	Polymorphism	p.GLN21HIS	N/A
Swiss-Prot	VAR_020638	Disease	p.GLN799HIS	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020633	Polymorphism	p.GLU678LYS	N/A
Swiss-Prot	VAR_006117	Disease	p.GLY27ARG	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_043701	Disease	p.GLY775ARG	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020637	Disease	p.GLY795ARG	Albinism, oculocutaneous, 2 (OCA2)
dbSNP	rs1800414	Polymorphism	p.HIS615ARG	N/A
Swiss-Prot	VAR_006136	Disease	p.HIS549GLN	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020632	Disease	p.ILE617LEU	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006134	Disease	p.ILE473SER	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020628	Polymorphism	p.ILE370THR	N/A
Swiss-Prot	VAR_006142	Polymorphism	p.ILE722THR	N/A
Swiss-Prot	VAR_006131	Polymorphism	p.LEU440HIS	N/A
Swiss-Prot	VAR_007939	Polymorphism	p.LEU440PHE	N/A
Swiss-Prot	VAR_020635	Polymorphism	p.LEU688PHE	N/A
Swiss-Prot	VAR_006138	Disease	p.LYS614ASN	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020631	Disease	p.LYS614GLU	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020630	Disease	p.MET394ILE	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006126	Disease	p.MET395LEU	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006133	Disease	p.MET446VAL	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006125	Disease	p.PHE385ILE	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_022019	Polymorphism	p.PRO241ARG	N/A
Swiss-Prot	VAR_020623	Disease	p.PRO198LEU	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020624	Disease	p.PRO211LEU	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006145	Disease	p.PRO743LEU	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006118	Disease	p.SER86ARG	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006144	Disease	p.SER736LEU	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006137	Disease	p.THR592ILE	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020629	Polymorphism	p.THR387MET	N/A
Swiss-Prot	VAR_006127	Disease	p.THR404MET	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006140	Disease	p.TRP652ARG	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_006141	Disease	p.TRP679ARG	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020634	Disease	p.TRP679CYS	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_043702	Disease	p.TYR827HIS	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_032096	Polymorphism	p.VAL519ALA	N/A
Swiss-Prot	VAR_006132	Disease	p.VAL443ILE	Albinism, oculocutaneous, 2 (OCA2)
Swiss-Prot	VAR_020627	Polymorphism	p.VAL350MET	N/A
OMIM	611409.0003	Disease	p.ALA481THR	ALBINISM, OCULOCUTANEOUS, TYPE II
OMIM	611409.0007	Disease	p.ALA334VAL	ALBINISM, OCULOCUTANEOUS, TYPE II
OMIM	611409.0012	Disease	p.ARG419GLN	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OMIM	611409.0011	Disease	p.ARG305TRP	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES\|\|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, INCLUDED
OMIM	611409.0010	Disease	p.ASN489ASP	ALBINISM, OCULOCUTANEOUS, TYPE II
OMIM	611409.0014	Disease	p.MET394ILE	ALBINISM, OCULOCUTANEOUS, TYPE II
OMIM	611409.0005	Disease	p.PRO743LEU	ALBINISM, OCULOCUTANEOUS, TYPE II
OMIM	611409.0009	Disease	p.TRP679CYS	ALBINISM, OCULOCUTANEOUS, TYPE II
OMIM	611409.0004	Disease	p.VAL443ILE	ALBINISM, OCULOCUTANEOUS, TYPE II

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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