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UniProtKB/Swiss-Prot P05156: Variant p.Arg317Trp

Complement factor I
Gene: CFI
Chromosomal location: 4q25
Variant information

Variant position:  317
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Tryptophan (W) at position 317 (R317W, p.Arg317Trp).
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 large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269|PubMed:15173250, ECO:0000269|PubMed:16621965, ECO:0000269|PubMed:17106690, ECO:0000269|PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In AHUS3.
Any additional useful information about the variant.

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



Sequence information

Variant position:  317
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  583
The length of the canonical sequence.

Location on the sequence:   ASVTQEETEILTADMDAERR  R IKSLLPKLSCGVKNRMHIRR
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                         ASVTQEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRR

Mouse                         AEIETEETEMLTPGMDNERKRIKSLLPKLSCGVKRNTHTRR

Rat                           TEIETEETEMLTPDMDTERKRIKSLLPKLSCGVKRNTHIRR

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.

TypePositionsDescription
Chain 19 – 583 Complement factor I
Chain 19 – 335 Complement factor I heavy chain
Helix 312 – 319


Literature citations

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
Caprioli J.; Noris M.; Brioschi S.; Pianetti G.; Castelletti F.; Bettinaglio P.; Mele C.; Bresin E.; Cassis L.; Gamba S.; Porrati F.; Bucchioni S.; Monteferrante G.; Fang C.J.; Liszewski M.K.; Kavanagh D.; Atkinson J.P.; Remuzzi G.;
Blood 108:1267-1279(2006)
Cited for: VARIANTS AHUS3 TRP-317 AND ASN-519;

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.