Variant position: 439 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 RPRSA-ELSEDDLLSQYSLSF TKKTKKNSSEGNK-------SLSFSEVF
Mouse RPRNE-ALAEDDLLSQYS-SV SKKIKENGCGD-------GT
Xenopus laevis RSYED-GVSDTDLISQYSFSK NKKARPDGDDPMQQ------
Zebrafish RPREDTSLSVDDLLEQYTAGV KRHCPET-------------
Drosophila RLEQA-KQTEAELFNMYSFKA KRRRSPSREDSVDQERTPPP
Slime mold DCLND-DDDDESIILSNNLNN QENVLESDCEFDDDDDQRGI
Baker's yeast QAEDKLTMAIKRRKLSNANVV QETLKDTRSKFFNK-PSMTV
Fission yeast RTHLA-NDISSEKQSIKSANE KAYVTPKSNSL---------
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
388 – 490 Interaction with MLH1
422 – 422 Phosphoserine
454 – 454 Phosphoserine
419 – 419 R -> A. Complete loss of nuclear localization.
454 – 454 S -> A. No rescue of HU-induced degradation. No rescue of HU-induced degradation; when associated with A-714. Loss of HU-sensitivity and resistance to HU-induced degradation; when associated with A-621 and A-714.
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-76; GLY-93; SER-279; SER-299; ARG-354; ASN-428; MET-439; TYR-456; MET-458; LEU-460; THR-503; LYS-589; GLN-634; GLY-670; CYS-723; LEU-757 AND GLU-759;
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;
Single nucleotide polymorphisms in the EXO1 gene and risk of colorectal cancer in a Japanese population.
Yamamoto H.; Hanafusa H.; Ouchida M.; Yano M.; Suzuki H.; Murakami M.; Aoe M.; Shimizu N.; Nakachi K.; Shimizu K.;
Cited for: VARIANTS MET-439 AND LEU-757;
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