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Results for the Protein: Q8TDN2
26006804

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 ↕
K_tetrapfam022143.4e-2199198
Ion_transpfam005203.6e-34304492
Ion_trans_2pfam078853.7e-12417493

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_027635Diseasep.ALA259VALCone dystrophy retinal 3B (RCD3B)
Swiss-ProtVAR_027637Diseasep.GLY459ASPCone dystrophy retinal 3B (RCD3B)
Swiss-ProtVAR_027632Diseasep.LEU126GLNCone dystrophy retinal 3B (RCD3B)
dbSNPrs12352254 Polymorphismp.LEU533VALN/A
Swiss-ProtVAR_027634Diseasep.SER256TRPCone dystrophy retinal 3B (RCD3B)
Swiss-ProtVAR_027633Diseasep.TRP188CYSCone dystrophy retinal 3B (RCD3B)
OMIM607604.0008 Diseasep.GLN76TERRETINAL CONE DYSTROPHY 3B
OMIM607604.0001 Diseasep.GLU143TERRETINAL CONE DYSTROPHY 3B
OMIM607604.0009 Diseasep.GLU148TERRETINAL CONE DYSTROPHY 3B
OMIM607604.0002 Diseasep.GLU306TERRETINAL CONE DYSTROPHY 3B
OMIM607604.0006 Diseasep.GLY461ARGRETINAL CONE DYSTROPHY 3B
OMIM607604.0003 Diseasep.GLY459ASPRETINAL CONE DYSTROPHY 3B
OMIM607604.0010 Diseasep.PHE164SERRETINAL CONE DYSTROPHY 3B
OMIM607604.0005 Diseasep.SER256TRPRETINAL CONE DYSTROPHY 3B



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