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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04275: Variant p.Val1316Met

von Willebrand factor
Gene: VWF
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Variant information Variant position: help 1316 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 Valine (V) to Methionine (M) at position 1316 (V1316M, p.Val1316Met). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 VWD2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1316 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2813 The length of the canonical sequence.
Location on the sequence: help LKAFVVDMMERLRISQKWVR V AVVEYHDGSHAYIGLKDRKR 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                         LKAFVVDMMERLRISQKWVRVAVVEYHDGSHAYIGLKDRKR

                              LKVFVVGMMEHLHISQKRIRVAVVEYHDGSHAYIELKDRKR

Mouse                         LKAFVVGMMERLHISQKRIRVAVVEYHDGSRAYLELKARKR
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 764 – 2813 von Willebrand factor
Domain 1277 – 1453 VWFA 1; binding site for platelet glycoprotein Ib
Disulfide bond 1272 – 1458
Alternative sequence 315 – 2813 Missing. In isoform 2.
Beta strand 1313 – 1329



Literature citations
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.
Cooney K.A.; Nichols W.C.; Bruck M.E.; Bahou W.F.; Shapiro A.D.; Bowie E.J.W.; Gralnick H.R.; Ginsburg D.;
J. Clin. Invest. 87:1227-1233(1991)
Cited for: VARIANTS VWD2 TRP-1306; CYS-1308; MET-1316 AND GLN-1341; VARIANT HIS-1399; Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.
Murray E.W.; Giles A.R.; Lillicrap D.;
Am. J. Hum. Genet. 50:199-207(1992)
Cited for: VARIANT VWD2 MET-1316; Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.
Pietu G.; Ribba A.S.; de Paillette L.; Cherel G.; Lavergne J.-M.; Bahnak B.R.; Meyer D.;
Blood Coagul. Fibrinolysis 3:415-421(1992)
Cited for: VARIANTS VWD2 TRP-1306; MET-1316; THR-1628 AND SER-1648;
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.