Results for the protein: P15882

Results for the Protein: P15882

21903393

1123

CHN1

NCBI, UniProt

CHIN_HUMAN RecName: Full=N-chimaerin; AltName: Full=A-chimaerin; AltName: Full=Alpha-chimerin; AltName: Full=N-chimerin; Short=NC; AltName: Full=Rho GTPase-activating protein 2

Known Diseases associated with this Protein:
DUANE RETRACTION SYNDROME 2
DUANE RETRACTION SYNDROME 2 (DURS2)

16

0

9

0

7

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Default View: SH2 - smart00252 C1 - smart00109 RhoGAP - smart00324	Swiss-Prot Protein: P15882 Identical to: NP_001813 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C1	smart00109	4.6e-14	206	255
RhoGAP	smart00324	1.1e-74	279	455

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_047943	Disease	p.ALA223VAL	Duane retraction syndrome 2 (DURS2)
Swiss-Prot	VAR_047946	Disease	p.GLU313LYS	Duane retraction syndrome 2 (DURS2)
Swiss-Prot	VAR_047944	Disease	p.GLY228SER	Duane retraction syndrome 2 (DURS2)
Swiss-Prot	VAR_047941	Disease	p.ILE126MET	Duane retraction syndrome 2 (DURS2)
Swiss-Prot	VAR_047940	Disease	p.LEU20PHE	Duane retraction syndrome 2 (DURS2)
Swiss-Prot	VAR_047945	Disease	p.PRO252GLN	Duane retraction syndrome 2 (DURS2)
Swiss-Prot	VAR_047942	Disease	p.TYR143HIS	Duane retraction syndrome 2 (DURS2)
OMIM	118423.0004	Disease	p.ALA223VAL	DUANE RETRACTION SYNDROME 2
OMIM	118423.0007	Disease	p.GLU313LYS	DUANE RETRACTION SYNDROME 2
OMIM	118423.0005	Disease	p.GLY228SER	DUANE RETRACTION SYNDROME 2
OMIM	118423.0002	Disease	p.ILE126MET	DUANE RETRACTION SYNDROME 2
OMIM	118423.0001	Disease	p.LEU20PHE	DUANE RETRACTION SYNDROME 2
OMIM	118423.0006	Disease	p.PRO252GLN	DUANE RETRACTION SYNDROME 2
OMIM	118423.0008	Disease	p.PRO141LEU	DUANE RETRACTION SYNDROME 2
OMIM	118423.0009	Disease	p.PRO252SER	DUANE RETRACTION SYNDROME 2
OMIM	118423.0003	Disease	p.TYR143HIS	DUANE RETRACTION SYNDROME 2

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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