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Results for the Protein: P25705
114517
498

ATPA_HUMAN RecName: Full=ATP synthase subunit alpha, mitochondrial; Flags: Precursor

Known Diseases associated with this Protein:
  (1 FAMILY)
  MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
  MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR 4 (MC5DN4)
2
2
1
1
2
Tips:
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Default View:

AtpA - COG0056
FliI - COG1157
NtpB - COG1156
ATP-synt_ab_N - pfam02874
AtpD - COG0055
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: P25705
Identical to: NP_001001937
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FliICOG11572.7e-1655494
NtpBCOG11561.2e-1265523
AtpDCOG00556.8e-0869538
F1_ATPase_alphacd011322.2e-179137418
F1-ATPase_betacd011332e-09137420
V_A-ATPase_Bcd011354.4e-05137417
ATPase_flagellum-seccd011366e-18137473
RecA-like_NTPasescd011204.7e-50207397
ATP-synt_ab_Npfam028742.3e-1967135
ATP-synt_abpfam000064.7e-113191415
ATP-synt_ab_Cpfam003069.4e-38427531

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs79011243 Polymorphismp.ALA32SERN/A
Swiss-ProtVAR_069769Diseasep.ARG329CYSMitochondrial complex V deficiency, nuclear 4 (MC5DN4)
Swiss-ProtVAR_048370Polymorphismp.ILE223VALN/A
OMIM164360.0001 Diseasep.ARG329CYSMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4||(1 family)



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