Results for the protein: Q9UHC1

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HATPase_c	cd00075	6.6e-05	22	150
MutL_Trans_hPMS_2_li	cd03484	5e-05	206	349
MutL_Trans_MLH3	cd03486	5.1e-82	206	349
TopoII_MutL_Trans	cd00329	1.4e-11	207	329
MutL_Trans	cd00782	4.6e-34	207	348
HATPase_c	pfam02518	4.7e-05	17	158
DNA_mis_repair	pfam01119	9e-05	211	348
MutL_C	smart00853	7e-37	1188	1361
MutL_C	pfam08676	1.2e-07	1189	1372

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_012953	Disease	p.ALA1394THR	Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-Prot	VAR_012949	Disease	p.ARG647CYS	Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-Prot	VAR_023343	Polymorphism	p.ARG600GLN	N/A
Swiss-Prot	VAR_023338	Polymorphism	p.ARG93GLY	N/A
Swiss-Prot	VAR_023348	Polymorphism	p.ARG797HIS	N/A
Swiss-Prot	VAR_036781	Polymorphism	p.ASN826ASP	N/A
Swiss-Prot	VAR_012952	Disease	p.ASN1007SER	Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-Prot	VAR_012947	Disease	p.ASN499SER	Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-Prot	VAR_023353	Polymorphism	p.ASP1073ASN	N/A
Swiss-Prot	VAR_023354	Polymorphism	p.ASP1105GLU	N/A
Swiss-Prot	VAR_012946	Disease	p.GLN24GLU	Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-Prot	VAR_012948	Disease	p.GLU624GLN	Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-Prot	VAR_012954	Disease	p.GLU1451LYS	Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-Prot	VAR_023356	Polymorphism	p.GLY1319ARG	N/A
Swiss-Prot	VAR_023355	Polymorphism	p.GLY1163ASP	N/A
Swiss-Prot	VAR_012951	Disease	p.GLY981SER	Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-Prot	VAR_010790	Polymorphism	p.HIS494ARG	N/A
Swiss-Prot	VAR_023342	Polymorphism	p.LEU492VAL	N/A
Swiss-Prot	VAR_023340	Polymorphism	p.LYS231GLN	N/A
Swiss-Prot	VAR_023339	Polymorphism	p.PHE120SER	N/A
Swiss-Prot	VAR_023349	Polymorphism	p.PRO844LEU	N/A
Swiss-Prot	VAR_012950	Disease	p.SER817GLY	Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-Prot	VAR_023350	Polymorphism	p.SER845GLY	N/A
Swiss-Prot	VAR_023352	Polymorphism	p.SER966PRO	N/A
Swiss-Prot	VAR_023351	Polymorphism	p.THR942ILE	N/A
Swiss-Prot	VAR_023344	Polymorphism	p.THR606PRO	N/A
dbSNP	rs28756988	Polymorphism	p.TYR720CYS	N/A
dbSNP	rs28756982	Polymorphism	p.VAL420ILE	N/A
Swiss-Prot	VAR_023346	Polymorphism	p.VAL723ILE	N/A
dbSNP	rs28756990	Polymorphism	p.VAL741PHE	N/A
OMIM	604395.0003	Disease	p.ASN499SER	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	604395.0002	Disease	p.GLN24GLU	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	604395.0004	Disease	p.GLU624GLN	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	604395.0005	Disease	p.GLU1451LYS	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	604395.0008	Disease	p.TRP1276ARG	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7
OMIM	604395.0007	Disease	p.VAL741PHE	ENDOMETRIAL CANCER\|\|COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7, INCLUDED

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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