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Results for the Protein: NP_001153682
237649019

calcium-binding mitochondrial carrier protein Aralar2 isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  CITRULLINEMIA, TYPE II, ADULT-ONSET
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2
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Default View:

Mito_carr - pfam00153




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Mito_carrpfam001533e-22425516
Mito_carrpfam001536.1e-38517612

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM603859.0007 Diseasep.ARG588GLNCITRULLINEMIA, TYPE II, ADULT-ONSET
OMIM603859.0004 Diseasep.SER225TERCITRULLINEMIA, TYPE II, ADULT-ONSET



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