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Results for the Protein: P35609
543742
88

ACTN2_HUMAN RecName: Full=Alpha-actinin-2; AltName: Full=Alpha-actinin skeletal muscle isoform 2; AltName: Full=F-actin cross-linking protein

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1AA (CMD1AA)
1
1
0
1
1
Tips:
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Default View:

CH - smart00033
CAMSAP_CH - pfam11971
SPEC - smart00150
EFh - smart00054
efhand_Ca_insen - pfam08726


Swiss-Prot Protein: P35609
Identical to: NP_001094
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHsmart000334.5e-2540140
CHsmart000331.1e-29153252
CAMSAP_CHpfam119711.5e-14161237
SPECsmart001503.2e-24404505
SPECsmart001504.4e-13519626
EFhsmart000540.00032793821
efhand_Ca_insenpfam087267.2e-40824890

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054628Diseasep.GLN9ARGCardiomyopathy, dilated 1AA (CMD1AA)
dbSNPrs35997569 Polymorphismp.MET604VALN/A



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