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Results for the Protein: NP_001263218
443497964

cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  ACRODYSOSTOSIS 1, WITH HORMONE RESISTANCE
  ACRODYSOSTOSIS 1, WITHOUT HORMONE RESISTANCE
  CARNEY COMPLEX, TYPE 1
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Default View:

RIIa - pfam02197
RIIa - smart00394
Crp - COG0664
cNMP - smart00100
CAP_ED - cd00038
cNMP_binding - pfam00027




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CAP_EDcd000381.2e-31137246
CAP_EDcd000381.3e-34255370
RIIapfam021971.2e-152561
cNMP_bindingpfam000273.7e-19155240
cNMP_bindingpfam000271.8e-24273364
RIIasmart003943.5e-162562
cNMPsmart001006.5e-31137252
cNMPsmart001009.9e-34255373

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM188830.0013 Diseasep.ARG74CYSCARNEY COMPLEX, TYPE 1
OMIM188830.0017 Diseasep.ARG335PROACRODYSOSTOSIS 1, WITHOUT HORMONE RESISTANCE
OMIM188830.0015 Diseasep.ARG368TERACRODYSOSTOSIS 1, WITH HORMONE RESISTANCE
OMIM188830.0018 Diseasep.ILE327THRACRODYSOSTOSIS 1, WITH HORMONE RESISTANCE
OMIM188830.0016 Diseasep.TYR373HISACRODYSOSTOSIS 1, WITH HORMONE RESISTANCE



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