Variant position: 714 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1451 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 GIAINLLPLLFSQDFAKDGG PVTSQESGQKLVSPLCLAPYF
Mouse GIVINLLPLFY-QECAKDAS RATSQESSQRSMSSLCLASHF
Rat GIVINLLPLFF-QEFAKDVS QVTSQESSQKSMSPLCLASHF
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 – 1451 Fanconi anemia group D2 protein
717 – 717 Phosphoserine
242 – 1451 Missing. In isoform 4.
Positional cloning of a novel Fanconi anemia gene, FANCD2.
Timmers C.; Taniguchi T.; Hejna J.; Reifsteck C.; Lucas L.; Bruun D.; Thayer M.; Cox B.; Olson S.; D'Andrea A.D.; Moses R.; Grompe M.;
Mol. Cell 7:241-248(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2); FUNCTION; TISSUE SPECIFICITY; VARIANTS FANCD2 TRP-302 AND HIS-1236; VARIANT LEU-714;
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-33; MET-61; HIS-65; MET-172; ALA-193; GLN-328; VAL-446; ARG-456; PRO-623; LEU-714; ARG-865 AND VAL-901;
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Olsen J.V.; Vermeulen M.; Santamaria A.; Kumar C.; Miller M.L.; Jensen L.J.; Gnad F.; Cox J.; Jensen T.S.; Nigg E.A.; Brunak S.; Mann M.;
Sci. Signal. 3:RA3-RA3(2010)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-8; SER-594; SER-717; SER-1412; SER-1423; THR-1426 AND SER-1435; VARIANT [LARGE SCALE ANALYSIS] LEU-714; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];
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