Results for the protein: P10644

Results for the Protein: P10644

125193

5573

PRKAR1A

NCBI, UniProt

KAP0_HUMAN RecName: Full=cAMP-dependent protein kinase type I-alpha regulatory subunit; AltName: Full=Tissue-specific extinguisher 1; Short=TSE1; Contains: RecName: Full=cAMP-dependent protein kinase type I-alpha regulatory subunit, N-terminally processed

Known Diseases associated with this Protein:
  ACRODYSOSTOSIS 1, WITH HORMONE RESISTANCE
  ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE (ACRDYS1)
  ACRODYSOSTOSIS 1, WITHOUT HORMONE RESISTANCE
  CARNEY COMPLEX 1 (CNC1)
  CARNEY COMPLEX, TYPE 1

21

1

5

0

17

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Default View: RIIa - pfam02197 RIIa - smart00394 Crp - COG0664 cNMP - smart00100 CAP_ED - cd00038 cNMP_binding - pfam00027	Swiss-Prot Protein: P10644 Identical to: NP_997636, NP_002725, NP_997637 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CAP_ED	cd00038	1.2e-31	137	246
CAP_ED	cd00038	1.3e-34	255	370
RIIa	pfam02197	1.2e-15	25	61
cNMP_binding	pfam00027	3.7e-19	155	240
cNMP_binding	pfam00027	1.8e-24	273	364
RIIa	smart00394	3.5e-16	25	62
cNMP	smart00100	6.5e-31	137	252
cNMP	smart00100	9.9e-34	255	373

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046898	Disease	p.ALA213ASP	Carney complex 1 (CNC1)
Swiss-Prot	VAR_069456	Disease	p.ALA213THR	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
Swiss-Prot	VAR_069462	Disease	p.ALA328VAL	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
Swiss-Prot	VAR_046895	Disease	p.ARG74CYS	Carney complex 1 (CNC1)
Swiss-Prot	VAR_069464	Disease	p.ARG335LEU	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
Swiss-Prot	VAR_069463	Disease	p.ARG335PRO	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
Swiss-Prot	VAR_046896	Disease	p.ARG146SER	Carney complex 1 (CNC1)
Swiss-Prot	VAR_069457	Polymorphism	p.ASP227ASN	N/A
Swiss-Prot	VAR_046897	Disease	p.ASP183TYR	Carney complex 1 (CNC1)
Swiss-Prot	VAR_069459	Disease	p.GLN285ARG	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
Swiss-Prot	VAR_069460	Disease	p.GLY289GLU	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
Swiss-Prot	VAR_046899	Disease	p.GLY289TRP	Carney complex 1 (CNC1)
Swiss-Prot	VAR_069461	Disease	p.ILE327THR	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
Swiss-Prot	VAR_046894	Disease	p.SER9ASN	Carney complex 1 (CNC1)
Swiss-Prot	VAR_069458	Disease	p.THR239ALA	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
Swiss-Prot	VAR_069465	Disease	p.TYR373CYS	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
Swiss-Prot	VAR_068241	Disease	p.TYR373HIS	Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
OMIM	188830.0013	Disease	p.ARG74CYS	CARNEY COMPLEX, TYPE 1
OMIM	188830.0017	Disease	p.ARG335PRO	ACRODYSOSTOSIS 1, WITHOUT HORMONE RESISTANCE
OMIM	188830.0015	Disease	p.ARG368TER	ACRODYSOSTOSIS 1, WITH HORMONE RESISTANCE
OMIM	188830.0018	Disease	p.ILE327THR	ACRODYSOSTOSIS 1, WITH HORMONE RESISTANCE
OMIM	188830.0016	Disease	p.TYR373HIS	ACRODYSOSTOSIS 1, WITH HORMONE RESISTANCE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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