Results for the protein: O43147

Results for the Protein: O43147

145566943

9905

SGSM2

NCBI, UniProt

SGSM2_HUMAN RecName: Full=Small G protein signaling modulator 2; AltName: Full=RUN and TBC1 domain-containing protein 1

			0 8 0 4 4

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Default View: RUN - pfam02759 RUN - smart00593 COG5210 - COG5210 TBC - smart00164 RabGAP-TBC - pfam00566	Swiss-Prot Protein: O43147 Identical to: NP_001091979 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG5210	COG5210	0.00089	534	1006
RabGAP-TBC	pfam00566	5.2e-22	759	962
RUN	smart00593	6.8e-17	128	188
TBC	smart00164	1e-26	742	941

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61744995	Polymorphism	p.ALA775VAL	N/A
dbSNP	rs2248821	Polymorphism	p.ARG374GLN	N/A
dbSNP	rs745400	Polymorphism	p.ARG238LYS	N/A
Swiss-Prot	VAR_031797	Polymorphism	p.ARG244SER	N/A
Swiss-Prot	VAR_031800	Polymorphism	p.ASP968VAL	N/A
Swiss-Prot	VAR_031798	Polymorphism	p.HIS329ARG	N/A
dbSNP	rs77994190	Polymorphism	p.HIS87GLN	N/A
Swiss-Prot	VAR_031795	Polymorphism	p.LEU63MET	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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