Results for the protein: Q8TDN2

Results for the Protein: Q8TDN2

26006804

169522

KCNV2

NCBI, UniProt

KCNV2_HUMAN RecName: Full=Potassium voltage-gated channel subfamily V member 2; AltName: Full=Voltage-gated potassium channel subunit Kv8.2

Known Diseases associated with this Protein:
CONE DYSTROPHY RETINAL 3B (RCD3B)
RETINAL CONE DYSTROPHY 3B

13

1

8

1

5

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Default View: K_tetra - pfam02214 Ion_trans - pfam00520 Ion_trans_2 - pfam07885	Swiss-Prot Protein: Q8TDN2 Identical to: NP_598004 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	3.6e-34	304	492
Ion_trans_2	pfam07885	3.7e-12	417	493

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_027635	Disease	p.ALA259VAL	Cone dystrophy retinal 3B (RCD3B)
Swiss-Prot	VAR_027637	Disease	p.GLY459ASP	Cone dystrophy retinal 3B (RCD3B)
Swiss-Prot	VAR_027632	Disease	p.LEU126GLN	Cone dystrophy retinal 3B (RCD3B)
dbSNP	rs12352254	Polymorphism	p.LEU533VAL	N/A
Swiss-Prot	VAR_027634	Disease	p.SER256TRP	Cone dystrophy retinal 3B (RCD3B)
Swiss-Prot	VAR_027633	Disease	p.TRP188CYS	Cone dystrophy retinal 3B (RCD3B)
OMIM	607604.0008	Disease	p.GLN76TER	RETINAL CONE DYSTROPHY 3B
OMIM	607604.0001	Disease	p.GLU143TER	RETINAL CONE DYSTROPHY 3B
OMIM	607604.0009	Disease	p.GLU148TER	RETINAL CONE DYSTROPHY 3B
OMIM	607604.0002	Disease	p.GLU306TER	RETINAL CONE DYSTROPHY 3B
OMIM	607604.0006	Disease	p.GLY461ARG	RETINAL CONE DYSTROPHY 3B
OMIM	607604.0003	Disease	p.GLY459ASP	RETINAL CONE DYSTROPHY 3B
OMIM	607604.0010	Disease	p.PHE164SER	RETINAL CONE DYSTROPHY 3B
OMIM	607604.0005	Disease	p.SER256TRP	RETINAL CONE DYSTROPHY 3B

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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