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Results for the Protein: Q7Z2E3
48428038

APTX_HUMAN RecName: Full=Aprataxin; AltName: Full=Forkhead-associated domain histidine triad-like protein; Short=FHA-HIT

Known Diseases associated with this Protein:
  ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
  ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
  ATAXIA-OCULOMOTOR APRAXIA SYNDROME (AOA)
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5
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9
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Default View:

DcpS_C - pfam11969


Swiss-Prot Protein: Q7Z2E3
Identical to: NP_001182177
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DcpS_Cpfam119697e-43182292

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018795Diseasep.ALA212VALAtaxia-oculomotor apraxia syndrome (AOA)
Swiss-ProtVAR_018796Diseasep.ARG213HISAtaxia-oculomotor apraxia syndrome (AOA)
Swiss-ProtVAR_018800Diseasep.ASP281GLYAtaxia-oculomotor apraxia syndrome (AOA)
Swiss-ProtVAR_018797Diseasep.HIS215ARGAtaxia-oculomotor apraxia syndrome (AOA)
Swiss-ProtVAR_025365Diseasep.LEU237PROAtaxia-oculomotor apraxia syndrome (AOA)
Swiss-ProtVAR_018794Diseasep.LYS211GLNAtaxia-oculomotor apraxia syndrome (AOA)
Swiss-ProtVAR_018798Diseasep.PRO220LEUAtaxia-oculomotor apraxia syndrome (AOA)
Swiss-ProtVAR_018801Diseasep.TRP293ARGAtaxia-oculomotor apraxia syndrome (AOA)
Swiss-ProtVAR_018799Diseasep.VAL277GLYAtaxia-oculomotor apraxia syndrome (AOA)
OMIM606350.0005 Diseasep.HIS27ARGATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
OMIM606350.0009 Diseasep.LEU223PROATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
OMIM606350.0002 Diseasep.PRO32LEUATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
OMIM606350.0006 Diseasep.TRP279TERATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
OMIM606350.0004 Diseasep.VAL89GLYATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA



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