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Results for the Protein: P15313
215274116
525

VATB1_HUMAN RecName: Full=V-type proton ATPase subunit B, kidney isoform; Short=V-ATPase subunit B 1; AltName: Full=Endomembrane proton pump 58 kDa subunit; AltName: Full=Vacuolar proton pump subunit B 1

Known Diseases associated with this Protein:
  RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
  RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS (DRTA-D)
13
3
3
2
11
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Default View:

FliI - COG1157
AtpA - COG0056
NtpB - COG1156
AtpD - COG0055
NtpA - COG1155
ATP-synt_ab_N - pfam02874
ATPase_flagellum-sec - cd01136
F1-ATPase_beta - cd01133
V_A-ATPase_B - cd01135
F1_ATPase_alpha - cd01132
ATP-synt_ab - pfam00006
RecA-like_NTPases - cd01120
ATP-synt_ab_C - pfam00306


Swiss-Prot Protein: P15313
Identical to: NP_001683
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AtpACOG00568e-1419501
NtpBCOG115635505
AtpDCOG00552.2e-0839507
NtpACOG11550.0005540512
F1_ATPase_alphacd011322.3e-28112396
F1-ATPase_betacd011331.9e-11112398
V_A-ATPase_Bcd011359.1e-200112395
ATPase_flagellum-seccd011363e-13112451
RecA-like_NTPasescd011202.6e-27182375
ATP-synt_ab_Npfam028747.7e-1244110
ATP-synt_abpfam000064e-88166393
ATP-synt_ab_Cpfam003061.2e-24410509

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021013Diseasep.ARG157CYSRenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
Swiss-ProtVAR_021015Diseasep.ARG465HISRenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
Swiss-ProtVAR_007867Diseasep.ARG124TRPRenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
Swiss-ProtVAR_021014Polymorphismp.GLU161LYSN/A
Swiss-ProtVAR_007870Diseasep.GLY316GLURenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
Swiss-ProtVAR_007872Diseasep.GLY364SERRenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
Swiss-ProtVAR_021012Diseasep.GLY123VALRenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
Swiss-ProtVAR_007866Diseasep.LEU81PRORenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
Swiss-ProtVAR_007868Diseasep.MET174ARGRenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
dbSNPrs11681642 Polymorphismp.MET1THRN/A
Swiss-ProtVAR_007871Diseasep.PRO346ARGRenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
dbSNPrs17720303 Polymorphismp.THR30ILEN/A
Swiss-ProtVAR_007869Diseasep.THR275PRORenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
OMIM192132.0001 Diseasep.ARG31TERRENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
OMIM192132.0005 Diseasep.GLY78ARGRENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
OMIM192132.0004 Diseasep.LEU81PRORENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS



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