UniProtKB/Swiss-Prot P01031: Variant p.Val802Ile

Complement C5
Gene: C5
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Variant information Variant position:

802 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 Valine (V) to Isoleucine (I) at position 802 (V802I, p.Val802Ile). 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:

C5 variants are responsible for poor response to eculizumab [MIM:615749]. Eculizumab is a monoclonal antibody highly effective in reducing intravascular hemolysis in patients with paroxysmal nocturnal hemoglobinuria. It specifically binds to the terminal complement protein C5, inhibits its cleavage into C5a and C5b, and prevents the formations of the cytolytic complement pore (PubMed:24521109). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs17611 [ dbSNP | Ensembl ]

Sequence information Variant position:

802 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1676 The length of the canonical sequence.
Location on the sequence:

RRKQLQFALPDSLTTWEIQG V GISNTGICVADTVKAKVFKD 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                         RRKQLQFALPDSLTTWEIQGVGISNTGICVADTVKAKVFKD

Mouse                         KRKQLQVTLPDSLTTWEIQGIGISDNGICVADTLKAKVFKE

Rat                           KRNQLQVALPDSLTTWEIQGIGISDNGICVADTLKAKVFKD

Pig                           -----------------------------------------

Bovine                        -----------------------------------------

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.

Type	Positions	Description
Chain	678 – 1676	Complement C5 alpha chain
Chain	752 – 1676	Complement C5 alpha' chain
Disulfide bond	567 – 810
Beta strand	796 – 805

Literature citations
Complete cDNA sequence of human complement pro-C5. Evidence of truncated transcripts derived from a single copy gene.
Haviland D.L.; Haviland J.C.; Fleischer D.T.; Hunt A.; Wetsel R.A.;
J. Immunol. 146:362-368(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ILE-389 AND ILE-802; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-145; GLY-449; ILE-802; GLN-928; VAL-933; THR-1033; ASN-1037; LYS-1043; ASN-1310 AND ASP-1437; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ILE-802; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ILE-802; Molecular analysis of human complement component C5: localization of the structural gene to chromosome 9.
Wetsel R.A.; Lemons R.S.; Lebeau M.M.; Barnum S.R.; Noack D.; Tack B.F.;
Biochemistry 27:1474-1482(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 412-1676; VARIANT ILE-802; Isolation and sequence analysis of a cDNA clone encoding the fifth complement component.
Lundwall A.B.; Wetsel R.A.; Kristensen T.; Whitehead A.S.; Woods D.E.; Ogden R.C.; Colten H.R.; Tack B.F.;
J. Biol. Chem. 260:2108-2112(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 412-1676; VARIANT ILE-802; C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect.
Delgado-Cervino E.; Fontan G.; Lopez-Trascasa M.;
Mol. Immunol. 42:105-111(2005)
Cited for: INVOLVEMENT IN COMPLEMENT C5 DEFICIENCY; VARIANTS ILE-389 AND ILE-802;

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.