Variant position: 438 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 575 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 YRRGKATCGDVDVLITHPDG RSHRGIFSRLLDSLRQEGFLT
Mouse YRRGKMTCGDVDVLITHPDG RSHRGIFSCLLDSLRQQGFLT
Rat FRRGKVTCGDVDVLITHPDG RSHQGIFSPLLDSLRQQGFLT
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 – 575 DNA polymerase lambda
427 – 427 Manganese
429 – 429 Manganese
427 – 427 D -> A. Loss of polymerase activity; when associated with A-429.
429 – 429 D -> A. Loss of polymerase activity; when associated with A-427.
435 – 438
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT TRP-438;
Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ.
Terrados G.; Capp J.P.; Canitrot Y.; Garcia-Diaz M.; Bebenek K.; Kirchhoff T.; Villanueva A.; Boudsocq F.; Bergoglio V.; Cazaux C.; Kunkel T.A.; Hoffmann J.S.; Blanco L.;
PLoS ONE 4:E7290-E7290(2009)
Cited for: FUNCTION; CATALYTIC ACTIVITY; VARIANT TRP-438; CHARACTERIZATION OF VARIANT TRP-438; MUTAGENESIS OF ASP-427 AND ASP-429;
The R438W polymorphism of human DNA polymerase lambda triggers cellular sensitivity to camptothecin by compromising the homologous recombination repair pathway.
Capp J.P.; Boudsocq F.; Bergoglio V.; Trouche D.; Cazaux C.; Blanco L.; Hoffmann J.S.; Canitrot Y.;
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT TRP-438;
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