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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00748: Variant p.Thr328Lys

Coagulation factor XII
Gene: F12
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Variant information Variant position: help 328 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 Threonine (T) to Lysine (K) at position 328 (T328K, p.Thr328Lys). 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 (T) 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 HAE3. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 328 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 SPRLHVPLMPAQPAPPKPQP T TRTPPQSQTPGALPAKREQP 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                         SPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPG-ALPAKREQP

Mouse                         PLVVPESQEESPSQAPSLSHAPNDSTDHQTS----------

Rat                           SPVSPESHDMLKPRPPILQSSPRDSTRNQNV----------

Pig                           PTQSPSEHQDSPLLSREPQPTTQTPSQNLTSAWCAPPEQRG

Bovine                        PLPSPSALQ-------KPESTTQTPLPSLTSGWCSPT----
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 20 – 372 Coagulation factor XIIa heavy chain
Region 298 – 359 Disordered
Compositional bias 302 – 332 Pro residues
Glycosylation 308 – 308 O-linked (GalNAc...) serine
Glycosylation 328 – 328 O-linked (GalNAc...) threonine
Glycosylation 329 – 329 O-linked (GalNAc...) threonine
Glycosylation 337 – 337 O-linked (GalNAc...) threonine



Literature citations
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.
Dewald G.; Bork K.;
Biochem. Biophys. Res. Commun. 343:1286-1289(2006)
Cited for: VARIANTS HAE3 LYS-328 AND ARG-328; Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
Cichon S.; Martin L.; Hennies H.C.; Mueller F.; Van Driessche K.; Karpushova A.; Stevens W.; Colombo R.; Renne T.; Drouet C.; Bork K.; Noethen M.M.;
Am. J. Hum. Genet. 79:1098-1104(2006)
Cited for: VARIANT HAE3 LYS-328;
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.