Results for the protein: P43657

Results for the Protein: P43657

34223726

10161

LPAR6

NCBI, UniProt

LPAR6_HUMAN RecName: Full=Lysophosphatidic acid receptor 6; Short=LPA receptor 6; Short=LPA-6; AltName: Full=Oleoyl-L-alpha-lysophosphatidic acid receptor; AltName: Full=P2Y purinoceptor 5; Short=P2Y5; AltName: Full=Purinergic receptor 5; AltName: Full=RB intron encoded G-protein coupled receptor

Known Diseases associated with this Protein:
  HYPOTRICHOSIS 8
  HYPOTRICHOSIS 8, INCLUDED
  WOOLLY HAIR AUTOSOMAL RECESSIVE 1 WITH OR WITHOUT HYPOTRICHOSIS (ARWH1)
  WOOLLY HAIR, AUTOSOMAL RECESSIVE 1
  WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS

8

3

5

1

5

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Default View: 7tm_1 - pfam00001	Swiss-Prot Protein: P43657 Identical to: NP_005758, NP_001155970, NP_001155969 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_044326	Disease	p.ASP63VAL	Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1)
dbSNP	rs4151553	Polymorphism	p.CYS137TRP	N/A
Swiss-Prot	VAR_044328	Disease	p.GLU189LYS	Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1)
Swiss-Prot	VAR_044327	Disease	p.ILE188PHE	Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1)
Swiss-Prot	VAR_022636	Polymorphism	p.ILE33VAL	N/A
Swiss-Prot	VAR_049430	Polymorphism	p.TRP307CYS	N/A
OMIM	609239.0001	Disease	p.GLN155TER	HYPOTRICHOSIS 8
OMIM	609239.0006	Disease	p.GLU189LYS	WOOLLY HAIR, AUTOSOMAL RECESSIVE 1\|\|HYPOTRICHOSIS 8, INCLUDED
OMIM	609239.0005	Disease	p.GLY146ARG	HYPOTRICHOSIS 8
OMIM	609239.0004	Disease	p.ILE188PHE	WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
OMIM	609239.0007	Disease	p.PRO196LEU	HYPOTRICHOSIS 8

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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