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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05156: Variant p.Gly243Asp

Complement factor I
Gene: CFI
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Variant information Variant position: help 243 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 Glycine (G) to Aspartate (D) at position 243 (G243D, p.Gly243Asp). 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 glycine (G) to medium size and acidic (D) 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 CFI deficiency. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 243 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 MDDFFQCVNGKYISQMKACD G INDCGDQSDELCCKACQGKG 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                         MDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKG

Mouse                         TSLSFQCVNGKHIPQEKACNGVNDCGDQSDELCCKGCRGNA

Rat                           TSQSFQCVNGKRIPQEKACDGVNDCGDQSDELCCKGCRGQA

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 19 – 335 Complement factor I heavy chain
Domain 213 – 257 LDL-receptor class A 1
Binding site 239 – 239
Binding site 242 – 242
Binding site 244 – 244
Binding site 246 – 246
Binding site 252 – 252
Binding site 253 – 253
Disulfide bond 33 – 255
Disulfide bond 229 – 247
Disulfide bond 241 – 256
Beta strand 242 – 244



Literature citations
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.
Servais A.; Fremeaux-Bacchi V.; Lequintrec M.; Salomon R.; Blouin J.; Knebelmann B.; Gruenfeld J.-P.; Lesavre P.; Noeel L.-H.; Fakhouri F.;
J. Med. Genet. 44:193-199(2007)
Cited for: VARIANT CFI DEFICIENCY ASP-243;
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.