Variant position: 726 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 846 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 DCNIKLLDSQSDQTSKLRLS HFSKKDTPL-RNKVPGLYKSSS
Mouse DCNNKSLDNQGEQNSKQHLP HFSK-KDGLRRNKVPGLCRSS
Xenopus laevis ASTPESPCQFTMKASPAHQS FFPEPKGSAPKSKVPGLLKSQ
Zebrafish DNSDKEKERDSVVSNSPSSS PLDRLKPAVNRTKVSGLSRKG
Drosophila SCSSDQRASSTSSSSQQRQN FLPTSKRRV------GLSKPS
Slime mold NNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNDNNNKIT
Baker's yeast DCDDNDGKNQITQRPSLRKS LIGARSQRI------------
Fission yeast -----------GHDALNRKN HASLPSRRI-------VYKP-
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 – 846 Exonuclease 1
600 – 846 Interaction with MSH2
714 – 714 Phosphoserine; by ATR
746 – 746 Phosphoserine
714 – 714 S -> A. No rescue of HU-induced degradation and loss of HU-induced increase of phosphorylation. No rescue of HU-induced degradation; when associated with A-621. No rescue of HU-induced degradation; when associated with A-454. Loss of HU-sensitivity and resistance to HU-induced degradation; when associated with A-454 and A-621.
Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations.
Thompson E.; Meldrum C.J.; Crooks R.; McPhillips M.; Thomas L.; Spigelman A.D.; Scott R.J.;
Clin. Genet. 65:215-225(2004)
Cited for: VARIANTS MET-439; GLY-670; PRO-726 AND LEU-757;
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.