Results for the protein: P51810

Results for the Protein: P51810

3219999

4935

GPR143

NCBI, UniProt

GP143_HUMAN RecName: Full=G-protein coupled receptor 143; AltName: Full=Ocular albinism type 1 protein

Known Diseases associated with this Protein:
  ALBINISM OCULAR 1 (OA1)
  ALBINISM, OCULAR, TYPE I
  NYSTAGMUS CONGENITAL X-LINKED 6 (NYS6)
  NYSTAGMUS, 6, CONGENITAL, X-LINKED

39

0

5

0

34

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Default View: Ocular_alb - pfam02101	Swiss-Prot Protein: P51810 Identical to: NP_000264 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005516	Disease	p.ALA173ASP	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005514	Disease	p.ALA138VAL	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018130	Disease	p.ARG5CYS	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_063273	Disease	p.ARG186PRO	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_063274	Disease	p.ARG186TRP	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018132	Disease	p.ASP78ASN	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018133	Disease	p.ASP78VAL	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005510	Disease	p.CYS116ARG	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_063267	Disease	p.CYS116GLY	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018134	Disease	p.CYS116SER	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_063268	Disease	p.CYS116TRP	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018135	Disease	p.GLN124ARG	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018140	Disease	p.GLU271GLY	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_063272	Disease	p.GLU185LYS	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018137	Disease	p.GLU233LYS	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005518	Disease	p.GLU235LYS	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005509	Disease	p.GLY84ARG	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005507	Disease	p.GLY35ASP	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005508	Disease	p.GLY84ASP	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005511	Disease	p.GLY118GLU	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018136	Disease	p.GLY229VAL	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_063265	Disease	p.GLY81VAL	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018139	Disease	p.ILE261ASN	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018138	Disease	p.ILE244VAL	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018131	Disease	p.LEU39ARG	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_063270	Disease	p.LEU134PRO	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005515	Disease	p.SER152ASN	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_063266	Disease	p.SER89PHE	Nystagmus congenital X-linked 6 (NYS6)
Swiss-Prot	VAR_063271	Disease	p.THR166ASN	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005517	Disease	p.THR232LYS	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_063269	Disease	p.TRP132ARG	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005513	Disease	p.TRP133ARG	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_018141	Disease	p.TRP292CYS	Albinism ocular 1 (OA1)
Swiss-Prot	VAR_005520	Disease	p.TRP292GLY	Albinism ocular 1 (OA1)
OMIM	300808.0008	Disease	p.GLY35ASP	ALBINISM, OCULAR, TYPE I
OMIM	300808.0004	Disease	p.SER152ASN	ALBINISM, OCULAR, TYPE I
OMIM	300808.0009	Disease	p.SER89PHE	NYSTAGMUS, 6, CONGENITAL, X-LINKED
OMIM	300808.0005	Disease	p.THR232LYS	ALBINISM, OCULAR, TYPE I
OMIM	300808.0003 300808.0006	Disease	p.TRP133ARG	ALBINISM, OCULAR, TYPE I

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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