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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01024: Variant p.Ala1094Val

Complement C3
Gene: C3
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Variant information Variant position: help 1094 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 Alanine (A) to Valine (V) at position 1094 (A1094V, p.Ala1094Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 AHUS5; leads to impaired binding to the regulator CD46/MCP and resistance to cleavage by factor I. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1094 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1663 The length of the canonical sequence.
Location on the sequence: help PSTWLTAYVVKVFSLAVNLI A IDSQVLCGAVKWLILEKQKP 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                         PSTWLTAYVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKP

Mouse                         PSTWLTAYVVKVFSLAANLIAIDSHVLCGAVKWLILEKQKP

Rat                           PSTWLTAMWSRSFSLAANLIAIDSQVLCGAVKWLILEKQKP

Pig                           SSTLLTAYVVKVFAMAANLIAIDSQVLCGAVKWLILEKQKP

Bovine                        PSTWLTAYVVKVFALAANLIAIDSKDLCETVKWLILEKQKP
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 23 – 1663 Complement C3
Chain 672 – 1663 Complement C3 alpha chain
Chain 749 – 1663 Complement C3b alpha' chain
Chain 955 – 1303 Complement C3dg fragment
Chain 1002 – 1303 Complement C3d fragment
Disulfide bond 873 – 1513
Mutagenesis 1110 – 1110 E -> A. No effect on binding of C3d to CR2.



Literature citations
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
Fremeaux-Bacchi V.; Miller E.C.; Liszewski M.K.; Strain L.; Blouin J.; Brown A.L.; Moghal N.; Kaplan B.S.; Weiss R.A.; Lhotta K.; Kapur G.; Mattoo T.; Nivet H.; Wong W.; Gie S.; Hurault de Ligny B.; Fischbach M.; Gupta R.; Hauhart R.; Meunier V.; Loirat C.; Dragon-Durey M.A.; Fridman W.H.; Janssen B.J.; Goodship T.H.; Atkinson J.P.;
Blood 112:4948-4952(2008)
Cited for: VARIANTS AHUS5 GLN-592; TRP-592; TRP-735; VAL-1094; ASN-1115; TRP-1158; LYS-1161 AND ASP-1464; CHARACTERIZATION OF VARIANTS AHUS5 GLN-592; TRP-592; VAL-1094; ASN-1115 AND LYS-1161;
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.