Results for the protein: Q8NET8

Results for the Protein: Q8NET8

62901456

162514

TRPV3

NCBI, UniProt

TRPV3_HUMAN RecName: Full=Transient receptor potential cation channel subfamily V member 3; Short=TrpV3; AltName: Full=Vanilloid receptor-like 3; Short=VRL-3

Known Diseases associated with this Protein:
  OLMSTED SYNDROME (OLMS)
  PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC
  PLAQUES

6

9

3

7

5

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Default View: ANK - cd00204 Ank - pfam00023 ANK - smart00248 Ion_trans - pfam00520	Swiss-Prot Protein: Q8NET8 Identical to: NP_659505 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ank	pfam00023	4.7e-05	214	246
Ank	pfam00023	0.00033	261	294
Ion_trans	pfam00520	0.00014	488	677
ANK	smart00248	0.00042	261	291

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs115770751	Polymorphism	p.ALA32GLY	N/A
dbSNP	rs75319568	Polymorphism	p.ALA628THR	N/A
dbSNP	rs322937	Polymorphism	p.ARG117GLY	N/A
dbSNP	rs78615718	Polymorphism	p.ASP198ASN	N/A
Swiss-Prot	VAR_067920	Disease	p.GLY573CYS	Olmsted syndrome (OLMS)
Swiss-Prot	VAR_067921	Disease	p.GLY573SER	Olmsted syndrome (OLMS)
Swiss-Prot	VAR_052388	Polymorphism	p.ILE25VAL	N/A
dbSNP	rs56169438	Polymorphism	p.LEU473PHE	N/A
dbSNP	rs114131791	Polymorphism	p.MET479LEU	N/A
Swiss-Prot	VAR_052390	Polymorphism	p.THR774ILE	N/A
Swiss-Prot	VAR_067922	Disease	p.TRP692GLY	Olmsted syndrome (OLMS)
dbSNP	rs8066242	Polymorphism	p.VAL132MET	N/A
OMIM	607066.0002	Disease	p.GLY573CYS	PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC\|\|PLAQUES
OMIM	607066.0001	Disease	p.GLY573SER	PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC\|\|PLAQUES
OMIM	607066.0003	Disease	p.TRP692GLY	PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC\|\|PLAQUES

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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