Results for the protein: Q99996

Results for the Protein: Q99996

14194461

10142

AKAP9

NCBI, UniProt

AKAP9_HUMAN RecName: Full=A-kinase anchor protein 9; Short=AKAP-9; AltName: Full=A-kinase anchor protein 350 kDa; Short=AKAP 350; Short=hgAKAP 350; AltName: Full=A-kinase anchor protein 450 kDa; Short=AKAP 450; AltName: Full=AKAP 120-like protein; AltName: Full=Centrosome- and Golgi-localized PKN-associated protein; Short=CG-NAP; AltName: Full=Protein hyperion; AltName: Full=Protein kinase A-anchoring protein 9; Short=PRKA9; AltName: Full=Protein yotiao

Known Diseases associated with this Protein:
LONG QT SYNDROME 11 (LQT11)

1

8

0

0

9

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Default View: PACT_coil_coil - pfam10495	Swiss-Prot Protein: Q99996 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_030162	Polymorphism	p.ASN2804SER	N/A
Swiss-Prot	VAR_043491	Polymorphism	p.GLN3448ARG	N/A
Swiss-Prot	VAR_035786	Polymorphism	p.GLU3301GLN	N/A
Swiss-Prot	VAR_043490	Polymorphism	p.LYS2496ARG	N/A
Swiss-Prot	VAR_035785	Polymorphism	p.MET2421ILE	N/A
Swiss-Prot	VAR_024249	Polymorphism	p.MET475ILE	N/A
Swiss-Prot	VAR_043492	Polymorphism	p.MET3618VAL	N/A
Swiss-Prot	VAR_030163	Polymorphism	p.PRO2983SER	N/A
Swiss-Prot	VAR_043489	Disease	p.SER1582LEU	Long QT syndrome 11 (LQT11)

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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