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UniProtKB/Swiss-Prot P05156: Variant p.Gly119Arg

Complement factor I
Gene: CFI
Variant information

Variant position:  119
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glycine (G) to Arginine (R) at position 119 (G119R, p.Gly119Arg).
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:  Change from glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  In AHUS3 and ARMD13; the mutant is both expressed and secreted at lower levels than wild-type protein; mediates C3 degradation to a lesser extent than that of controls.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  119
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  583
The length of the canonical 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.




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.

Chain 19 – 583 Complement factor I
Chain 19 – 335 Complement factor I heavy chain
Domain 114 – 212 SRCR
Glycosylation 103 – 103 N-linked (GlcNAc...) (complex) asparagine
Disulfide bond 33 – 255

Literature citations

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Maga T.K.; Nishimura C.J.; Weaver A.E.; Frees K.L.; Smith R.J.H.;
Hum. Mutat. 31:E1445-E1460(2010)
Cited for: VARIANTS AHUS3 LEU-64; ARG-119; ARG-183; ARG-287; LEU-416 AND THR-522;

A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
van de Ven J.P.; Nilsson S.C.; Tan P.L.; Buitendijk G.H.; Ristau T.; Mohlin F.C.; Nabuurs S.B.; Schoenmaker-Koller F.E.; Smailhodzic D.; Campochiaro P.A.; Zack D.J.; Duvvari M.R.; Bakker B.; Paun C.C.; Boon C.J.; Uitterlinden A.G.; Liakopoulos S.; Klevering B.J.; Fauser S.; Daha M.R.; Katsanis N.; Klaver C.C.; Blom A.M.; Hoyng C.B.; den Hollander A.I.;
Nat. Genet. 45:813-817(2013)

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.