UniProtKB/Swiss-Prot P05156: Variant p.Asp524Val

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

Variant position:  524
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Aspartate (D) to Valine (V) at position 524 (D524V, p.Asp524Val).
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 medium size and acidic (D) to medium size and hydrophobic (V)
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.



Sequence information

Variant position:  524
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:   YEKEMECAGTYDGSIDACKG  D SGGPLVCMDANNVTYVWGVV
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                         YEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVV

Mouse                         YEKEMQCAGTRDGSIDACKGDSGGPLVCEDINNVTYVWGIV

Rat                           YEKEMQCAGTSDGSIDACKGDSGGPLVCKDVNNVTYVWGIV

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 340 – 583 Complement factor I light chain
Domain 340 – 574 Peptidase S1
Active site 525 – 525 Charge relay system
Glycosylation 536 – 536 N-linked (GlcNAc...)
Disulfide bond 467 – 531
Disulfide bond 521 – 550


Literature citations

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.
Fremeaux-Bacchi V.; Dragon-Durey M.-A.; Blouin J.; Vigneau C.; Kuypers D.; Boudailliez B.; Loirat C.; Rondeau E.; Fridman W.H.;
J. Med. Genet. 41:E84-E84(2004)
Cited for: VARIANT AHUS3 VAL-524;

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.