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Results for the Protein: Q13488
223634720

VPP3_HUMAN RecName: Full=V-type proton ATPase 116 kDa subunit a isoform 3; Short=V-ATPase 116 kDa isoform a3; AltName: Full=Osteoclastic proton pump 116 kDa subunit; Short=OC-116 kDa; Short=OC116; AltName: Full=T-cell immune regulator 1; AltName: Full=T-cell immune response cDNA7 protein; Short=TIRC7; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3

Known Diseases associated with this Protein:
  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OPTB1)
8
2
3
1
6
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Default View:

NtpI - COG1269
V_ATPase_I - pfam01496


Swiss-Prot Protein: Q13488
Identical to: NP_006010
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NtpICOG12696.5e-8424828
V_ATPase_Ipfam0149626826

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_020988Diseasep.ALA141PROOsteopetrosis, autosomal recessive 1 (OPTB1)
Swiss-ProtVAR_019570Diseasep.ARG444LEUOsteopetrosis, autosomal recessive 1 (OPTB1)
dbSNPrs36027301 Polymorphismp.ARG56TRPN/A
Swiss-ProtVAR_020990Diseasep.ASP517ASNOsteopetrosis, autosomal recessive 1 (OPTB1)
Swiss-ProtVAR_019569Diseasep.GLY405ARGOsteopetrosis, autosomal recessive 1 (OPTB1)
Swiss-ProtVAR_020991Diseasep.PRO775ARGOsteopetrosis, autosomal recessive 1 (OPTB1)
Swiss-ProtVAR_054341Polymorphismp.PRO161LEUN/A
OMIM604592.0006 Diseasep.ARG444LEUOSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
OMIM604592.0002 Diseasep.CYS464TEROSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
OMIM604592.0005 Diseasep.GLY405ARGOSTEOPETROSIS, AUTOSOMAL RECESSIVE 1



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