UniProtKB/Swiss-Prot P05106: Variant p.Val453Ile

Integrin beta-3
Gene: ITGB3
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Variant information Variant position:

453 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 Valine (V) to Isoleucine (I) at position 453 (V453I, p.Val453Ile). 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:

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:

3 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
Polymorphism:

Genetic variants in ITGB3 define different platelet-specific alloantigen systems that are involved in fetomaternal alloimmune thromobocytopenia. Alloantigen system Pl(A), also known as Zw or HPA-1, is characterized by variant p.Pro59Leu (alloantigen Pl(A1) or HPA-1A) and by variant p.Leu59Pro (alloantigen Pl(A2) or HPA-1B) (PubMed:2565345). Alloantigen system Pen, also known as Yuk or HPA-4, is characterized by variant p.Gln169Arg (alloantigen Pen(A)) and variant p.Arg169Gln (alloantigen Pen(B)) (PubMed:3798869, PubMed:1430225). Alloantigen system Mo is characterized by variant p.Pro433Ala (alloantigen Mo(+)) and variant p.Ala433Pro (alloantigen Mo(-)) (PubMed:8093349). Alloantigen system CA/TU is characterized by variant p.Gln515Arg (alloantigen CA(-)/TU(-)) and variant p.Arg515Gln (alloantigen CA(+)/TU(+)) (PubMed:7694683). Alloantigen system Sra is characterized by variant p.Cys662Arg (alloantigen Sra(-)) and variant p.Arg662Cys (alloantigen Sra(+)) (PubMed:8132570). Alloantigen system Sec(a) is characterized by variant p.Lys606Asn (alloantigen Sec(a+)) and variant p.Asn606Lys (alloantigen Sec(a-)) (PubMed:22116617). Additional platelet-specific alloantigens involved in fetomaternal alloimmune thromobocytopenia are known (PubMed:12036875, PubMed:19821948, PubMed:25494608, PubMed:28518345, PubMed:31859394). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs5921 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PQEKEKSFTIKPVGFKDSLI V QVTFDCDCACQAQAEPNSHR 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                         PQEKEKSFTIKPVGFKDSLIVQVTFDCDCACQAQAEPNSHR

Mouse                         PQEKEQSFTIKPVGFKDSLTVQVTFDCDCACQAFAQPSSPR

Rat                           PQQKEQSFTIKPVGFKDSLTVQVTFDCDCDCQAFAQPLSPR

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	27 – 788	Integrin beta-3
Topological domain	27 – 718	Extracellular
Disulfide bond	39 – 461
Disulfide bond	432 – 459
Beta strand	451 – 457

Literature citations
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS PRO-59; GLN-169 AND ILE-453;

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.