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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08603: Variant p.Ile1169Leu

Complement factor H
Gene: CFH
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Variant information Variant position: help 1169 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 Isoleucine (I) to Leucine (L) at position 1169 (I1169L, p.Ile1169Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In AHUS1. Any additional useful information about the variant.


Sequence information Variant position: help 1169 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1231 The length of the canonical sequence.
Location on the sequence: help RITCRNGQWSEPPKCLHPCV I SREIMENYNIALRWTAKQKL 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                         RITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKL

Mouse                         TITCRNGKWSEPPTCLHACVIPENIMESHNIILKWRHTEKI

Bovine                        NVVCRNGEWSQLPKCLEACVISEETMRKHHIQLRWKHDKKI
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 – 1231 Complement factor H
Disulfide bond 1167 – 1218
Alternative sequence 450 – 1231 Missing. In isoform 2.
Mutagenesis 1182 – 1182 R -> A. About 50% loss of C3b binding.
Mutagenesis 1183 – 1183 W -> L. About 40% loss of C3b binding.
Mutagenesis 1186 – 1186 K -> A. About 20% loss of C3b binding.
Mutagenesis 1188 – 1188 K -> A. About 50% loss of C3b binding.
Beta strand 1167 – 1169



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 AHUS1 TYR-325; ILE-609; LEU-1169 AND CYS-1183; VARIANT ASP-936;
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.