Variant position: 839 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 KGVCDQSFGIHVAELANFPK HVIECAKQKALELEEFQYIGE
Mouse KGVCDQSFGIHVAELANFPR HVIACAKQKALELEEFQNIGT
Rat TGVCDQSFGIHVAELANFPR HVIECAKQKALELEEFQSIGT
Bovine KGVCDQSFGIHVAELANFPR HVIECAKQKALELEEFQNIGK
Drosophila SGVMEKSFGIQVARLANFPE HVVQNAQEVYNEFED-EHVDK
Slime mold QGPCDQSFGIHVAILANFPS QVIENAKQKAKELESFESNTL
Baker's yeast PGISDQSFGIHVAEVVQFPE KIVKMAKRKANELDDLKTNNE
Fission yeast EGASDRSFGIHVAKLAHFPP KIIEMASNKAAELEA-EDSGA
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
838 – 850
Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
Yuan Y.; Huang Y.-Q.; Cai S.-R.; Song Y.-M.; Zheng S.; Zhang S.-Z.;
Jpn. J. Clin. Oncol. 34:660-666(2004)
Cited for: VARIANT HNPCC1 ARG-839; VARIANT ARG-629;
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.
Arora S.; Huwe P.J.; Sikder R.; Shah M.; Browne A.J.; Lesh R.; Nicolas E.; Deshpande S.; Hall M.J.; Dunbrack R.L. Jr.; Golemis E.A.;
Cancer Biol. Ther. 18:519-533(2017)
Cited for: VARIANTS GLN-5; GLY-55; PRO-534; ILE-813 AND ARG-839; CHARACTERIZATION OF VARIANTS GLN-5; GLY-55; PRO-534; ILE-813 AND ARG-839;
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.