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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01024: Variant p.Phe603Val

Complement C3
Gene: C3
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Variant information Variant position: help 603 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 Phenylalanine (F) to Valine (V) at position 603 (F603V, p.Phe603Val). 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 aromatic (F) to medium size and hydrophobic (V) 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 AHUS5. Any additional useful information about the variant.


Sequence information Variant position: help 603 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 LKIEGDHGARVVLVAVDKGV F VLNKKNKLTQSKIWDVVEKA 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                         LKIEGDHGARVVLVAVDKGVFVLNKKNKLTQSKIWDVVEKA

Mouse                         LRIEGNQGARVGLVAVDKGVFVLNKKNKLTQSKIWDVVEKA

Rat                           LRIEGNQGARVGLVAVDKGVFVLNKKNKLTQSKIWDVVEKA

Pig                           LEIQGERGARVGLVAVDKGVFVLNKKNKLTQRRIWDVVEKA

Bovine                        LKIEADQGARVGLVAVDKGVFVLNKKNKLTQRKIWDVVEKA
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 23 – 667 Complement C3 beta chain
Chain 569 – 667 C3-beta-c
Disulfide bond 559 – 816 Interchain (between beta and alpha chains)
Helix 600 – 605



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 AHUS5 VAL-603 AND LEU-1042;
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.