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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00748: Variant p.Gln440Lys

Coagulation factor XII
Gene: F12
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Variant information Variant position: help 440 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Glutamine (Q) to Lysine (K) at position 440 (Q440K, p.Gln440Lys). 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: help Change from medium size and polar (Q) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In FA12D; CRM-negative phenotype; accumulation in the cell; low secretion. Any additional useful information about the variant.


Sequence information Variant position: help 440 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 615 The length of the canonical sequence.
Location on the sequence: help PEDLTVVLGQERRNHSCEPC Q TLAVRSYRLHEAFSPVSYQH 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQH

Mouse                         PEELTVVLGQDRHNQSCEWCQTLAVRSYRLHEGFSSITYQH

Rat                           PEELTVVLGQDRHNQSCERCQTLAVHSYRLHEGFSSKTYQH

Pig                           PEELTVVLGQDRHNQSCEQCQTLAVRSYRLHESYSPKTYQH

Bovine                        PKELTVVLGQDRHNQSCEQCQTLAVRDYRLHEAFSPITYQH
Sequence annotation in neighborhood: help 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 373 – 615 Coagulation factor XIIa light chain
Domain 373 – 614 Peptidase S1
Glycosylation 433 – 433 N-linked (GlcNAc...) asparagine
Disulfide bond 359 – 486
Disulfide bond 405 – 475
Beta strand 440 – 449



Literature citations
Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency.
Kanaji T.; Kanaji S.; Osaki K.; Kuroiwa M.; Sakaguchi M.; Mihara K.; Niho Y.; Okamura T.;
Thromb. Haemost. 86:1409-1415(2001)
Cited for: VARIANTS FA12D PRO-142 AND LYS-440; CHARACTERIZATION OF VARIANTS FA12D PRO-142 AND LYS-440;
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.