UniProtKB/Swiss-Prot P04275: Variant p.Thr1381Ala

von Willebrand factor
Gene: VWF
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Variant information Variant position:

1381 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 Threonine (T) to Alanine (A) at position 1381 (T1381A, p.Thr1381Ala). 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 medium size and polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Other resources:

Links to websites of interest for the variant.

Variant rs216311 [ dbSNP | Ensembl ]

Sequence information Variant position:

1381 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:

LKYTLFQIFSKIDRPEASRI T LLLMASQEPQRMSRNFVRYV 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                         LKYTLFQIFSKIDRPEASRITLLLMASQEPQRMSRNFVRYV

                              LKYTLFQIFGKIDRPEASRIALLLMASQEPSRLARNLVRYV

Mouse                         LKYTLFQIFGKIDRPEASHITLLLTASQEPPRMARNLVRYV

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	1277 – 1453	VWFA 1; binding site for platelet glycoprotein Ib
Disulfide bond	1272 – 1458
Alternative sequence	315 – 2813	Missing. In isoform 2.
Beta strand	1377 – 1385

Literature citations
Nucleotide sequence of pre-pro-von Willebrand factor cDNA.
Bonthron D.; Orr E.C.; Mitsock L.M.; Ginsburg D.; Handin R.I.; Orkin S.H.;
Nucleic Acids Res. 14:7125-7128(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-852; ALA-1381 AND HIS-1472; Structure of the gene for human von Willebrand factor.
Mancuso D.J.; Tuley E.A.; Westfield L.A.; Worrall N.K.; Shelton-Inloes B.B.; Sorace J.M.; Alevy Y.G.; Sadler J.E.;
J. Biol. Chem. 264:19514-19527(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-471; ARG-852; ALA-1381 AND HIS-1472; Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit.
Verweij C.L.; Diergaarde P.J.; Hart M.; Pannekoek H.;
EMBO J. 5:1839-1847(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1400 (ISOFORM 1); VARIANTS ARG-484; ARG-852 AND ALA-1381; Amino acid sequence of human von Willebrand factor.
Titani K.; Kumar S.; Takio K.; Ericsson L.H.; Wade R.D.; Ashida K.; Walsh K.A.; Chopek M.W.; Sadler J.E.; Fujikawa K.;
Biochemistry 25:3171-3184(1986)
Cited for: PROTEIN SEQUENCE OF 764-2813; VARIANTS ARG-852 AND ALA-1381; Cloning and characterization of two cDNAs coding for human von Willebrand factor.
Sadler J.E.; Shelton-Inloes B.B.; Sorace J.M.; Harlan J.M.; Titani K.; Davie E.W.;
Proc. Natl. Acad. Sci. U.S.A. 82:6394-6398(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 744-873 AND 1289-2813 (ISOFORM 1); VARIANTS ALA-789; ARG-852 AND ALA-1381; cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms.
Shelton-Inloes B.B.; Titani K.; Sadler J.E.;
Biochemistry 25:3164-3171(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 781-1424 (ISOFORM 1); VARIANTS ARG-852 AND ALA-1381; Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction.
Mancuso D.J.; Tuley E.A.; Westfield L.A.; Lester-Mancuso T.L.; Le Beau M.M.; Sorace J.M.; Sadler J.E.;
Biochemistry 30:253-269(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 990-1947; VARIANTS ALA-1381 AND HIS-1472; Activation of human platelets by the membrane-expressed A1 domain of von Willebrand factor.
Schulte am Esch J. II; Cruz M.A.; Siegel J.B.; Anrather J.; Robson S.C.;
Blood 90:4425-4437(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1236-1476 (ISOFORM 1); VARIANT ALA-1381;

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