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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05156: Variant p.Lys522Thr

Complement factor I
Gene: CFI
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Variant information Variant position: help 522 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 Lysine (K) to Threonine (T) at position 522 (K522T, p.Lys522Thr). 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 (K) to medium size and polar (T) 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 AHUS3. Any additional useful information about the variant.


Sequence information Variant position: help 522 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 583 The length of the canonical sequence.
Location on the sequence: help RFYEKEMECAGTYDGSIDAC K GDSGGPLVCMDANNVTYVWG 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                         RFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWG

Mouse                         RYYEKEMQCAGTRDGSIDACKGDSGGPLVCEDINNVTYVWG

Rat                           RYYEKEMQCAGTSDGSIDACKGDSGGPLVCKDVNNVTYVWG
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 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...) asparagine
Disulfide bond 467 – 531
Disulfide bond 521 – 550



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;
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.