Variant position: 718 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 SGQQSEVPGSIPNSW--------KWTVE HIVYKALRSHILPPKHFTEDG
Mouse SGQQSDMPGSTSKPW--------KWTVE HIIYKAFRSHLLP
Rat SGQQSDMPGSPSKPW--------KWTVE HIIYKAFRSHLLP
Slime mold NNQQQTNSTTTTNNINFIKKDGKEWIIQ HLIFPAFR-KLSP
Baker's yeast SEDEKAQFINRKEHI--------SSLLE HVLFPCIKRRFLA
Fission yeast SYEESDVKSIRSL----------ESCLE DYLFPEFRRRVIC
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
712 – 718
Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer.
Weber T.K.; Chin H.-M.; Rodriguez-Bigas M.; Keitz B.; Gilligan R.; O'Malley L.; Urf E.; Diba N.; Pazik J.; Petrelli N.J.;
Cited for: VARIANT HNPCC2 PHE-25; VARIANT TYR-718;
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;
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Barnetson R.A.; Cartwright N.; van Vliet A.; Haq N.; Drew K.; Farrington S.; Williams N.; Warner J.; Campbell H.; Porteous M.E.; Dunlop M.G.;
Hum. Mutat. 29:367-374(2008)
Cited for: VARIANTS CRC GLU-67 AND THR-681; VARIANTS ALA-22; GLY-93; SER-309; ASN-406; HIS-607; ALA-618; ARG-689; MET-716; TYR-718 AND ARG-751;
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.