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Results for the Protein: NP_001244264
382546190
498

ATP synthase subunit alpha, mitochondrial isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  (1 FAMILY)
  MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
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Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FliICOG11572.7e-165444
NtpBCOG11561.2e-1215473
AtpDCOG00556.8e-0819488
F1_ATPase_alphacd011322.2e-17987368
F1-ATPase_betacd011332e-0987370
ATPase_flagellum-seccd011366e-1887423
V_A-ATPase_Bcd011354.4e-0587367
RecA-like_NTPasescd011204.7e-50157347
ATP-synt_ab_Npfam028742.3e-191785
ATP-synt_abpfam000064.7e-113141365
ATP-synt_ab_Cpfam003069.4e-38377481

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM164360.0001 Diseasep.ARG279CYSMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4||(1 family)



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