UniProtKB/Swiss-Prot P00748: Variant p.Ala207Pro

Coagulation factor XII
Gene: F12
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Variant information Variant position:

207 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 Alanine (A) to Proline (P) at position 207 (A207P, p.Ala207Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) 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
Other resources:

Links to websites of interest for the variant.

Variant rs17876030 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GRCLEVEGHRLCHCPVGYTG A FCDVDTKASCYDGRGLSYRG 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                         GRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYD--GRGLSYRG

Mouse                         GSCLLVEDHPLCRCPTGYTGYFCDLDLWATCYE--GRGLSY

Rat                           GTCLLVEDHRLCHCPAGYAGPFCDLDLKATCYE--DRGLSY

Pig                           GSCLQTEGHRLCRCPTGYAGRLCDVDLKERCYS--DRGLSY

Bovine                        GSCLQAEGHRLCRCAPSFAGRLCDVDLKASCYDDRDRGLSY

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	20 – 372	Coagulation factor XIIa heavy chain
Domain	174 – 210	EGF-like 2
Disulfide bond	200 – 209

Literature citations
Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region.
Cool D.E.; McGillivray R.T.A.;
J. Biol. Chem. 262:13662-13673(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-207; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-207; ASP-545 AND HIS-605; cDNA sequence coding for human coagulation factor XII (Hageman).
Tripodi M.; Citarella F.; Guida S.; Galeffi P.; Fantoni A.; Cortese R.;
Nucleic Acids Res. 14:3146-3146(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-615; VARIANT PRO-207; Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa.
Cool D.E.; Edgell C.-J.S.; Louie G.V.; Zoller M.J.; Brayer G.D.; McGillivray R.T.A.;
J. Biol. Chem. 260:13666-13676(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 14-615; VARIANT PRO-207; Characterization of a cDNA coding for human factor XII (Hageman factor).
Que B.G.; Davie E.W.;
Biochemistry 25:1525-1528(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 146-615; VARIANT PRO-207; Amino acid sequence of the heavy chain of human alpha-factor XIIa (activated Hageman factor).
McMullen B.A.; Fujikawa K.;
J. Biol. Chem. 260:5328-5341(1985)
Cited for: PROTEIN SEQUENCE OF 20-379; GLYCOSYLATION AT ASN-249; THR-299; THR-305; SER-308; THR-328; THR-329 AND THR-337; VARIANT PRO-207;

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.