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UniProtKB/Swiss-Prot P01024: Variant p.Pro314Leu

Complement C3
Gene: C3
Variant information

Variant position:  314
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Proline (P) to Leucine (L) at position 314 (P314L, p.Pro314Leu).
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:  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:  -3
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

Polymorphism:  There are two alleles: C3S (C3 slow), the most common allele in all races and C3F (C3 fast), relatively frequent in Caucasians, less common in Black Americans, extremely rare in Orientals.
Additional information on the polymorphism described.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  314
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1663
The length of the canonical sequence.

Location on the sequence:   EDGSGEVVLSRKVLLDGVQN  P RAEDLVGKSLYVSATVILHS
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         EDGSGEVVLSRKVLLDGVQNPRAEDLVGKSLYVSATVILHS

Mouse                         EDGVGDAVLTRKVLMEGVRPSNADALVGKSLYVSVTVILHS

Rat                           EDGSGEAVLSRKVLMDGVRPSSPEALVGKSLYVSVTVILHS

Pig                           IDGTGEATLSQGVLLNGVHYSSVNDLVGKSIYVSVTVILNS

Bovine                        NDGNGEAILKRQVLLNGVQPSRADALVGKSIYVSATVILQS

Sequence annotation in neighborhood:  
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
Modified residue 297 – 297 Phosphoserine; by FAM20C
Modified residue 303 – 303 Phosphoserine; by FAM20C


Literature citations

Human complement component C3: cDNA coding sequence and derived primary structure.
de Bruijn M.H.L.; Fey G.H.;
Proc. Natl. Acad. Sci. U.S.A. 82:708-712(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LEU-314;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-102; LEU-314; LYS-863; ASP-1224 AND THR-1367;

Molecular basis of polymorphisms of human complement component C3.
Botto M.; Yong Fong K.; So A.K.; Koch C.; Walport M.J.;
J. Exp. Med. 172:1011-1017(1990)
Cited for: VARIANTS GLY-102 AND LEU-314;

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.