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Results for the Protein: NP_778243
28329436

aprataxin isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
  ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
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Default View:

aprataxin_related - cd01278
DcpS_C - pfam11969
HIT - pfam01230
PKCI_related - cd01276
HIT_like - cd00468


RefSeq Protein: NP_778243
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
aprataxin_relatedcd012781.9e-59164265
HIT_likecd004683e-05182265
PKCI_relatedcd012767e-08182266
HITpfam012301.2e-08174269
DcpS_Cpfam119697e-43168278

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM606350.0005 Diseasep.HIS13ARGATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
OMIM606350.0009 Diseasep.LEU209PROATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
OMIM606350.0002 Diseasep.PRO18LEUATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
OMIM606350.0006 Diseasep.TRP265TERATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
OMIM606350.0004 Diseasep.VAL75GLYATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA



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