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Results for the Protein: Q9HBG4
308153516

VPP4_HUMAN RecName: Full=V-type proton ATPase 116 kDa subunit a isoform 4; Short=V-ATPase 116 kDa isoform a4; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform

Known Diseases associated with this Protein:
  RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
  RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE (RTADR)
  RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET
  SENSORINEURAL HEARING LOSS
12
6
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4
8
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Default View:

NtpI - COG1269
V_ATPase_I - pfam01496


Swiss-Prot Protein: Q9HBG4
Identical to: NP_570855, NP_570856, NP_065683
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NtpICOG12696.9e-10324837
V_ATPase_Ipfam0149626831

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs73730479 Polymorphismp.ALA630THRN/A
Swiss-ProtVAR_020996Diseasep.ARG807GLNRenal tubular acidosis, distal, autosomal recessive (RTADR)
Swiss-ProtVAR_020995Diseasep.ARG449HISRenal tubular acidosis, distal, autosomal recessive (RTADR)
Swiss-ProtVAR_017257Diseasep.GLY820ARGRenal tubular acidosis, distal, autosomal recessive (RTADR)
Swiss-ProtVAR_020993Diseasep.GLY175ASPRenal tubular acidosis, distal, autosomal recessive (RTADR)
Swiss-ProtVAR_066613Polymorphismp.HIS604GLNN/A
dbSNPrs61747674 Polymorphismp.LEU345ILEN/A
dbSNPrs3807153 Polymorphismp.MET580THRN/A
Swiss-ProtVAR_017256Diseasep.MET580THRRenal tubular acidosis, distal, autosomal recessive (RTADR)
Swiss-ProtVAR_066612Polymorphismp.PHE554LEUN/A
Swiss-ProtVAR_017255Diseasep.PRO524LEURenal tubular acidosis, distal, autosomal recessive (RTADR)
dbSNPrs10258719 Polymorphismp.VAL2ALAN/A
OMIM605239.0010 Diseasep.ARG807GLNRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET||SENSORINEURAL HEARING LOSS
OMIM605239.0001 Diseasep.GLU753TERRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
OMIM605239.0002 Diseasep.GLY820ARGRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
OMIM605239.0005 Diseasep.MET580THRRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
OMIM605239.0008 Diseasep.PRO524LEURENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
OMIM605239.0009 Diseasep.TYR502TERRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET||SENSORINEURAL HEARING LOSS



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