Variant position: 302 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 IKFILHSVTAMDTLEVISEL REKLDLQHCVLPSRLQASQVK
Mouse VKFLLHSVTDTTSLEVIAEL RENLNVQQFILPSRIQASQSK
Rat VKFILHSVTDSTSLEVIAEL REKLNVQHFTLPSRIQASQSK
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
248 – 359 Interaction with BRCA2
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;
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.