Variant position: 603 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 756 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 FDLAMLALDSPESGWTEEDG PKEGLAEYIVEFLKKKAEMLA
Mouse FDLAMLALDSPESGWTEDDG PKEGLAEYIVEFLKKKAEMLA
Rat FDFAMLALDSPESGWTEEDG PKEGLAEYIVEFLKKKAKMLA
Slime mold YSLLLVSLDSPLSGWMESDG PKDKIADYLTKLLISKKELLN
Baker's yeast DDIVLYNLLSEFDE-LNDDA SKEK----IISKIWDMSSMLN
Fission yeast SDLFEIV-----NG-DEDKS ESEK----FTRLLVSRRDMLK
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 – 756 DNA mismatch repair protein Mlh1
410 – 650 Interaction with EXO1
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
Mueller-Koch Y.; Kopp R.; Lohse P.; Baretton G.; Stoetzer A.; Aust D.; Daum J.; Kerker B.; Gross M.; Dietmeier W.; Holinski-Feder E.;
Eur. J. Med. Res. 6:473-482(2001)
Cited for: VARIANTS HNPCC2 VAL-80; PRO-329; ARG-603; ALA-618; LEU-648 AND PRO-662; VARIANT HNPCC ARG-689;
hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer.
Rossi B.M.; Lopes A.; Oliveira Ferreira F.; Nakagawa W.T.; Napoli Ferreira C.C.; Casali Da Rocha J.C.; Simpson C.C.; Simpson A.J.G.;
Ann. Surg. Oncol. 9:555-561(2002)
Cited for: VARIANTS HNPCC2 SER-338; ARG-603; THR-618 AND TYR-718;
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I.; Vezain M.; Martins A.; Charbonnier F.; Baert-Desurmont S.; Olschwang S.; Wang Q.; Buisine M.P.; Soret J.; Tazi J.; Frebourg T.; Tosi M.;
Hum. Mutat. 29:1412-1424(2008)
Cited for: VARIANT HNPCC2 ILE-330 DEL; VARIANTS HIS-41; ARG-67; ARG-77; SER-98; SER-101; ASP-101; LYS-116; MET-117; ASN-126; MET-213; SER-215; SER-216; PHE-260; CYS-265; HIS-265; ASP-320; ALA-326; ILE-330 DEL; TRP-474; GLN-474; ASP-539; PRO-549; THR-551; ARG-585; ARG-603; HIS-607; PRO-619; SER-640; LEU-640; VAL-655; SER-656; ARG-666; THR-681 AND ARG-689;
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