Results for the protein: Q02952

Results for the Protein: Q02952

317373554

9590

AKAP12

NCBI, UniProt

AKA12_HUMAN RecName: Full=A-kinase anchor protein 12; Short=AKAP-12; AltName: Full=A-kinase anchor protein 250 kDa; Short=AKAP 250; AltName: Full=Gravin; AltName: Full=Myasthenia gravis autoantigen

			0 13 0 10 3

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Default View: WSK - pfam03832	Swiss-Prot Protein: Q02952 Identical to: NP_005091 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
WSK	pfam03832	2.2e-13	753	783
WSK	pfam03832	4.2e-08	798	828

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_056731	Polymorphism	p.ALA987SER	N/A
Swiss-Prot	VAR_035119	Polymorphism	p.ARG1296LEU	N/A
dbSNP	rs3823310	Polymorphism	p.GLU1600ASP	N/A
dbSNP	rs3734795	Polymorphism	p.GLU1689ASP	N/A
dbSNP	rs13212161	Polymorphism	p.GLU920GLY	N/A
dbSNP	rs12201388	Polymorphism	p.GLU1355LYS	N/A
Swiss-Prot	VAR_035780	Polymorphism	p.GLU240LYS	N/A
dbSNP	rs3734799	Polymorphism	p.LYS216GLN	N/A
dbSNP	rs10872670	Polymorphism	p.LYS117GLU	N/A
dbSNP	rs41289375	Polymorphism	p.PRO1183ARG	N/A
dbSNP	rs73780648	Polymorphism	p.PRO254LEU	N/A
dbSNP	rs3734797	Polymorphism	p.VAL1096ILE	N/A
dbSNP	rs34713284	Polymorphism	p.VAL1582MET	N/A

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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