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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NVI1: Variant p.Arg1285Gln

Fanconi anemia group I protein
Gene: FANCI
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Variant information Variant position: help 1285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Glutamine (Q) at position 1285 (R1285Q, p.Arg1285Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In FANCI; abolishes function in DNA repair. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1328 The length of the canonical sequence.
Location on the sequence: help IHLSKKSKVNLMQHMKLSTS R DFKIKGNILDMVLREDGEDE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         IHLSKKSKVN--LMQHMKLSTSRDFKIKGNILDMVL-------------------REDGEDE

Mouse                         IQLSKKSKVN--LMQHMKLSTSRDFKIKGSVLDMVL-----

Drosophila                    ILLSKKTKSKNRLTDYLHLGTMRDFDIKSTDLRAAIERSIS
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1328 Fanconi anemia group I protein
Alternative sequence 253 – 1328 Missing. In isoform 4.
Beta strand 1284 – 1287



Literature citations
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.;
Cell 129:289-301(2007)
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;
Disclaimer: 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.