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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Methionine (M) at position 1316 (V1316M, p.Val1316Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In VWD2.
Other resources: help


Sequence information Variant position: help 1316
Protein sequence length: help 2813
Location on the sequence: help LKAFVVDMMERLRISQKWVR V AVVEYHDGSHAYIGLKDRKR
Residue conservation: help 
Human                         LKAFVVDMMERLRISQKWVRVAVVEYHDGSHAYIGLKDRKR

                              LKVFVVGMMEHLHISQKRIRVAVVEYHDGSHAYIELKDRKR

Mouse                         LKAFVVGMMERLHISQKRIRVAVVEYHDGSRAYLELKARKR
Sequence annotation in neighborhood: help
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.