Variant position: 411 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2286 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 KDSQGEYKAPQCIHMDCLRW VKRDSYLPVGSHNLKAAAKAK
Mouse KDSQGEYKAPQCIHMDCLRW VKRDSYLPVGSHNLKAAAKAK
Slime mold NDN-GEYRSKINPHMDAFCW VKRDSYLPHGSHGLKAVTREK
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 – 2286 DNA polymerase epsilon catalytic subunit A
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C.; Cazier J.B.; Howarth K.M.; Domingo E.; Jones A.M.; Broderick P.; Kemp Z.; Spain S.L.; Guarino Almeida E.; Salguero I.; Sherborne A.; Chubb D.; Carvajal-Carmona L.G.; Ma Y.; Kaur K.; Dobbins S.; Barclay E.; Gorman M.; Martin L.; Kovac M.B.; Humphray S.; Lucassen A.; Holmes C.C.; Bentley D.; Donnelly P.; Taylor J.; Petridis C.; Roylance R.; Sawyer E.J.; Kerr D.J.; Clark S.; Grimes J.; Kearsey S.E.; Thomas H.J.; McVean G.; Houlston R.S.; Tomlinson I.;
Nat. Genet. 45:136-144(2013)
Cited for: VARIANTS CRCS12 LEU-411 AND VAL-424; VARIANTS THR-189; HIS-231; HIS-286; SER-367; ARG-436; PHE-459; TRP-762; ASN-777; ASN-1008; VAL-1255; MET-1368; SER-1421; ASN-1752; ASN-2013; THR-2056 AND VAL-2213;
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
Wimmer K.; Beilken A.; Nustede R.; Ripperger T.; Lamottke B.; Ure B.; Steinmann D.; Reineke-Plaass T.; Lehmann U.; Zschocke J.; Valle L.; Fauth C.; Kratz C.P.;
Fam. Cancer 16:67-71(2017)
Cited for: VARIANT CRCS12 LEU-411;
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