UniProtKB/Swiss-Prot P04275: Variant p.Tyr1584Cys

von Willebrand factor
Gene: VWF
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Variant information Variant position:

1584 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 Tyrosine (Y) to Cysteine (C) at position 1584 (Y1584C, p.Tyr1584Cys). 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 large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Exhibits increased in susceptibility to proteolysis by ADAMTS13. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1800386 [ dbSNP | Ensembl ]

Sequence information Variant position:

1584 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2813 The length of the canonical sequence.
Location on the sequence:

RVREIRYQGGNRTNTGLALR Y LSDHSFLVSQGDREQAPNLV 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                         RVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLV

                              QVRDIRYRGGNRTNTGLALQYLSEHSFSVSQGDREQVPNLV

Mouse                         HVREIRYQGGNRTNTGQALQYLSEHSFSPSQGDRVEAPNLV

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	764 – 2813	von Willebrand factor
Domain	1498 – 1665	VWFA 2
Glycosylation	1574 – 1574	N-linked (GlcNAc...) asparagine
Alternative sequence	315 – 2813	Missing. In isoform 2.
Helix	1578 – 1587

Literature citations
Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.
Donner M.; Kristoffersson A.C.; Berntorp E.; Scheibel E.; Thorsen S.; Dahlback B.; Nilsson I.M.; Holmberg L.;
Eur. J. Haematol. 51:38-44(1993)
Cited for: VARIANTS VWD2 GLY-1597 AND ARG-1609; VARIANT CYS-1584; The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype.
Bowen D.J.; Collins P.W.; Lester W.; Cumming A.M.; Keeney S.; Grundy P.; Enayat S.M.; Bolton-Maggs P.H.; Keeling D.M.; Khair K.; Tait R.C.; Wilde J.T.; Pasi K.J.; Hill F.G.;
Br. J. Haematol. 128:830-836(2005)
Cited for: VARIANT CYS-1584;

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.