Results for the protein: O95163

Results for the Protein: O95163

215274166

8518

IKBKAP

NCBI, UniProt

ELP1_HUMAN RecName: Full=Elongator complex protein 1; Short=ELP1; AltName: Full=IkappaB kinase complex-associated protein; Short=IKK complex-associated protein; AltName: Full=p150

Known Diseases associated with this Protein:
DYSAUTONOMIA, FAMILIAL
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, 3 (HSAN3)

3

14

2

7

8

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Default View: IKI3 - pfam04762 COG5290 - COG5290	Swiss-Prot Protein: O95163 Identical to: NP_003631 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IKI3	pfam04762		1	954

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_047476	Polymorphism	p.ARG70CYS	N/A
Swiss-Prot	VAR_047479	Polymorphism	p.ARG525GLN	N/A
Swiss-Prot	VAR_011327	Disease	p.ARG696PRO	Neuropathy, hereditary sensory and autonomic, 3 (HSAN3)
dbSNP	rs3204145	Polymorphism	p.CYS1072SER	N/A
Swiss-Prot	VAR_047478	Polymorphism	p.GLU312LYS	N/A
dbSNP	rs2230792	Polymorphism	p.GLY765ALA	N/A
Swiss-Prot	VAR_047480	Polymorphism	p.GLY765GLU	N/A
dbSNP	rs2230795	Polymorphism	p.GLY1013SER	N/A
dbSNP	rs2230793	Polymorphism	p.ILE816LEU	N/A
dbSNP	rs2230794	Polymorphism	p.ILE830MET	N/A
Swiss-Prot	VAR_047484	Polymorphism	p.LYS952ILE	N/A
Swiss-Prot	VAR_047477	Polymorphism	p.MET182LYS	N/A
dbSNP	rs1538660	Polymorphism	p.PRO1158LEU	N/A
dbSNP	rs35942802	Polymorphism	p.SER96GLY	N/A
Swiss-Prot	VAR_047483	Polymorphism	p.THR848ASN	N/A
OMIM	603722.0002	Disease	p.ARG696PRO	DYSAUTONOMIA, FAMILIAL
OMIM	603722.0003	Disease	p.PRO914LEU	DYSAUTONOMIA, FAMILIAL

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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