Variant position: 428 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 LNLPRKSSIVKRPRSA-ELSE DDLLSQYSLSFTKKTKKNSSE
Mouse LNLPRKSCVLKRPRNE-ALAE DDLLSQYS-SVSKKIKENGC
Xenopus laevis LILPSKKHTVKRSYED-GVSD TDLISQYSFSKNKKARPDGD
Zebrafish LKLPQRESQVKRPREDTSLSV DDLLEQYTAGVKRHCPET--
Drosophila KTLNEEIEANQRLEQA-KQTE AELFNMYSFKAKRRRSPSRE
Slime mold YDFQIDSFEIDDCLND-DDDD ESIILSNNLNNQENVLESDC
Baker's yeast PKVANNIHSLRQAEDKLTMAI KRRKLSNANVVQETLKDTRS
Fission yeast ---------VQRTHLA-NDIS SEKQSIKSANEKAYVTPKSN
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
418 – 418 K -> AT. Complete loss of nuclear localization.
419 – 419 R -> A. Complete loss of nuclear localization.
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;
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.