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UniProtKB/Swiss-Prot P00751: Variant p.Arg32Gln

Complement factor B
Gene: CFB
Variant information

Variant position:  32
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 32 (R32Q, p.Arg32Gln).
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:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Polymorphism:  Two major variants, F and S, and 2 minor variants, as well as at least 14 very rare variants, have been identified.
Additional information on the polymorphism described.

Variant description:  In allele S; may be associated with a reduced risk for age-related macular degeneration.
Any additional useful information about the variant.

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



Sequence information

Variant position:  32
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  764
The length of the canonical sequence.

Location on the sequence:   MPFILGLLSGGVTTTPWSLA  R PQGSCSLEGVEIKGGSFRLL
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                         MPFILGLLSGGVTTTPWSLARPQGSCSLEGVEIKGGSFRLL

Gorilla                       MPFILGLLSGGVTTTPWSLARPQGSCSLEGVEIKGGSFRLL

Chimpanzee                    MPFILGLLSGGVTTTPWPLAQPQESCSLEGVEIKGGSFRLL

Mouse                         VLLVLGFSSGGVSATPVLEARPQVSCSLEGVEIKGGSFQLL

Bovine                        VPLILGLLCGGVGMTPLPEAGPQSPCSLEGVEIKGGSFRLL

Slime mold                    ILLVLTCLVSSINT---------------------------

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 26 – 764 Complement factor B
Chain 26 – 259 Complement factor B Ba fragment


Literature citations

Molecular characterization of human complement factor B subtypes.
Davrinche C.; Abbal M.; Clerc A.;
Immunogenetics 32:309-312(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-28; GLN-28; GLN-32 AND SER-736;

Human factor B. Complete cDNA sequence of the BF*S allele.
Mejia J.E.; Jahn I.; de la Salle H.; Hauptmann G.;
Hum. Immunol. 39:49-53(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-28 AND GLN-32;

Human complement factor B: functional properties of a recombinant zymogen of the alternative activation pathway convertase.
Schwaeble W.; Luettig B.; Sokolowski T.; Estaller C.; Weiss E.H.; Meyer Zum Bueschenfelde K.-H.; Whaley K.; Dippold W.;
Immunobiology 188:221-232(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-28 AND GLN-32;

Human complement factor B: cDNA cloning, nucleotide sequencing, phenotypic conversion by site-directed mutagenesis and expression.
Horiuchi T.; Kim S.; Matsumoto M.; Watanabe I.; Fujita S.; Volanakis J.E.;
Mol. Immunol. 30:1587-1592(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-28 AND GLN-32;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-9; GLN-32; TRP-32; SER-252; GLU-565 AND GLU-651;

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
Gold B.; Merriam J.E.; Zernant J.; Hancox L.S.; Taiber A.J.; Gehrs K.; Cramer K.; Neel J.; Bergeron J.; Barile G.R.; Smith R.T.; Hageman G.S.; Dean M.; Allikmets R.;
Nat. Genet. 38:458-462(2006)
Cited for: VARIANTS HIS-9 AND GLN-32; INVOLVEMENT IN ARMD14;

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 AHUS4 PRO-166; GLN-203; LEU-242; GLN-323; ILE-458 AND ARG-533;

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.