Variant position: 1285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1328 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 IHLSKKSKVNLMQHMKLSTS RDFKIKGNILDMVLREDGEDE
Mouse IQLSKKSKVNLMQHMKLSTS RDFKIKGSVLDMVLREDEEDE
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 – 1328 Fanconi anemia group I protein
253 – 1328 Missing. In isoform 4.
Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.
Smogorzewska A.; Matsuoka S.; Vinciguerra P.; McDonald E.R. III; Hurov K.E.; Luo J.; Ballif B.A.; Gygi S.P.; Hofmann K.; D'Andrea A.D.; Elledge S.J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); FUNCTION; UBIQUITINATION AT LYS-523; PHOSPHORYLATION AT SER-730; THR-952 AND SER-1121; SUBCELLULAR LOCATION; INTERACTION WITH FANCD2; VARIANTS FANCI LEU-55 AND GLN-1285; CHARACTERIZATION OF VARIANTS FANCI LEU-55 AND GLN-1285;
Identification of the Fanconi anemia complementation group I gene, FANCI.
Dorsman J.C.; Levitus M.; Rockx D.; Rooimans M.A.; Oostra A.B.; Haitjema A.; Bakker S.T.; Steltenpool J.; Schuler D.; Mohan S.; Schindler D.; Arwert F.; Pals G.; Mathew C.G.; Waisfisz Q.; de Winter J.P.; Joenje H.;
Cell. Oncol. 29:211-218(2007)
Cited for: FUNCTION; VARIANT FANCI GLN-1285; VARIANT LEU-55;
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.