Variant position: 475 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 862 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 SSSTSGAISDKGVLRPQKEA VSSSHGPSDPTDRAEVEK----DSG
Mouse SSYPSDVISYRGLRGSQDKL VSPTDSPGDCMDREKIEK---
Chicken DTILSTVRTQKAVLSEDSES CHEMKSKM-PVPRKYLRKVDD
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
1 – 862 Mismatch repair endonuclease PMS2
391 – 552 Disordered
184 – 862 Missing. In isoform 4.
269 – 669 Missing. In isoform 2.
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 ARG-36; GLU-475; HIS-699; ASN-792 AND MET-853; CHARACTERIZATION OF VARIANTS ARG-36; GLU-475; HIS-699; ASN-792 AND MET-853;
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