UniProtKB/Swiss-Prot P00751: Variant p.Trp28Arg

Complement factor B
Gene: CFB
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Variant information Variant position:

28 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 Tryptophan (W) to Arginine (R) at position 28 (W28R, p.Trp28Arg). 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 aromatic (W) to large size and basic (R) 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:

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. Any additional useful information about the variant.

Sequence information Variant position:

28 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:

QLCLMPFILGLLSGGVTTTP W SLARPQGSCSLEGVEIKGGS 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                         QL--CLMPFILGLLSGGVTTTPWSLARPQGSCSLEGVEIKGGS

Gorilla                       QL--CLMPFILGLLSGGVTTTPWSLARPQGSCSLEGVEIKG

Chimpanzee                    QL--CLMPFILGLLSGGVTTTPWPLAQPQESCSLEGVEIKG

Mouse                         QL--CLVLLVLGFSSGGVSATPVLEARPQVSCSLEGVEIKG

Bovine                        RL--CLVPLILGLLCGGVGMTPLPEAGPQSPCSLEGVEIKG

Slime mold                    KLLNSLILLVLTCLVSSINT---------------------

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	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;

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.