Variant position: 506 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 934 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human NDLEKKMQSTLISAARDLGL DPGKQIKLDSSAQFGYYFRVT
Mouse DGLEKKMQSTLINAARGLGL DPGKQIKLDSSAQFGYYFRVT
Rat DGLEKKMQSTLISAARGLGL DPGKQIKLDSSAQFGYYFRVT
Bovine DDLEKKMQSTLVSAARDLGL DPGKQIKLDSSTQFGYYFRVT
Drosophila TELYSKMEELQFKCSQELNL DGKNQVKLESVAKLGHHFRIT
Slime mold DQISNKIERFRVDIADDLNL D-EAKVKLHYSEKDMFLLRIS
Baker's yeast DTLRDEIHSIHLDSAEDLGF DPDKKLKLENHHLHGWCMRLT
Fission yeast DELQHSIFEEHKRVGSDLHQ DTEKKLHLEQHHLYGWCLRLT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 934 DNA mismatch repair protein Msh2
Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.
Han H.-J.; Yuan Y.; Ku J.-L.; Oh J.-H.; Won Y.-J.; Kang K.J.; Kim K.Y.; Kim S.; Kim C.Y.; Kim J.-P.; Oh N.-G.; Lee K.H.; Choe K.J.; Nakamura Y.; Park J.-G.;
J. Natl. Cancer Inst. 88:1317-1319(1996)
Cited for: VARIANT HNPCC1 TYR-506;
Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
Yuan Y.; Han H.-J.; Zheng S.; Park J.-G.;
Dis. Colon Rectum 41:434-440(1998)
Cited for: VARIANT CRC TYR-506; VARIANT HNPCC1 ILE-688;
Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
Drotschmann K.; Clark A.B.; Kunkel T.A.;
Curr. Biol. 9:907-910(1999)
Cited for: CHARACTERIZATION OF VARIANTS ASP-322; PHE-390; LYS-419; TYR-506; PRO-524; LEU-622 AND PHE-697;
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
Shin Y.-K.; Heo S.-C.; Shin J.-H.; Hong S.-H.; Ku J.-L.; Yoo B.-C.; Kim I.-J.; Park J.-G.;
Hum. Mutat. 24:351-351(2004)
Cited for: VARIANTS HNPCC1 LEU-440 DEL; TYR-506; ARG-629 AND ILE-688;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.