Results for the protein: Q9UIF7

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Nth	COG0177	1.3e-14	101	311
ENDO3c	cd00056	5.3e-51	125	283
DNA_Glycosylase_C	cd03431	2.7e-39	365	494
HhH-GPD	pfam00730	4.2e-45	129	265
HHH	pfam00633	0.00044	193	223
NUDIX	pfam00293	2e-11	366	497
ENDO3c	smart00478	1.7e-52	133	285
FES	smart00525	4.8e-07	286	306
EndIII_4Fe-2S	pfam10576	0.00011	287	303

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_048262	Polymorphism	p.ALA370VAL	N/A
Swiss-Prot	VAR_064939	Disease	p.ARG179CYS	Familial adenomatous polyposis 2 (FAP2)
dbSNP	rs3219497	Polymorphism	p.ARG531GLN	N/A
Swiss-Prot	VAR_026047	Disease	p.ARG179HIS	Familial adenomatous polyposis 2 (FAP2)
Swiss-Prot	VAR_064940	Disease	p.ARG182TRP	Familial adenomatous polyposis 2 (FAP2)
Swiss-Prot	VAR_026048	Disease	p.ARG238TRP	Familial adenomatous polyposis 2 (FAP2)
Swiss-Prot	VAR_026050	Disease	p.GLN411ARG	Gastric cancer (GASC)
dbSNP	rs3219489	Polymorphism	p.GLN335HIS	N/A
Swiss-Prot	VAR_018875	Disease	p.GLY393ASP	Familial adenomatous polyposis 2 (FAP2)
Swiss-Prot	VAR_018876	Polymorphism	p.GLY500GLU	N/A
Swiss-Prot	VAR_018877	Polymorphism	p.LEU526MET	N/A
Swiss-Prot	VAR_026049	Disease	p.PRO402SER	Gastric cancer (GASC)
Swiss-Prot	VAR_026051	Polymorphism	p.SER512PHE	N/A
Swiss-Prot	VAR_026046	Disease	p.TRP128ARG	Familial adenomatous polyposis 2 (FAP2)
Swiss-Prot	VAR_018873	Disease	p.TYR176CYS	Familial adenomatous polyposis 2 (FAP2)
Swiss-Prot	VAR_026045	Disease	p.TYR125HIS	Familial adenomatous polyposis 2 (FAP2)
dbSNP	rs3219484	Polymorphism	p.VAL22MET	N/A
OMIM	604933.0007	Disease	p.GLN397ARG	GASTRIC CANCER, SOMATIC
OMIM	604933.0005	Disease	p.GLU463TER	FAMILIAL ADENOMATOUS POLYPOSIS 2
OMIM	604933.0002	Disease	p.GLY379ASP	FAMILIAL ADENOMATOUS POLYPOSIS 2\|\|ENDOMETRIAL CANCER, INCLUDED
OMIM	604933.0006	Disease	p.PRO388SER	GASTRIC CANCER, SOMATIC
OMIM	604933.0001	Disease	p.TYR162CYS	FAMILIAL ADENOMATOUS POLYPOSIS 2\|\|ENDOMETRIAL CANCER, INCLUDED
OMIM	604933.0004	Disease	p.TYR87TER	FAMILIAL ADENOMATOUS POLYPOSIS 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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