UniProtKB/Swiss-Prot P05106: Variant p.Arg662Cys

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

662 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 Arginine (R) to Cysteine (C) at position 662 (R662C, p.Arg662Cys). 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 basic (R) to medium size and polar (C) 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:

Position 59 is associated with platelet-specific alloantigen HPA-1 (ZW or PL(A)). HPA-1A/ZW(A)/PL(A1) has Leu-59 and HPA-1B/ZW(B)/PL(A2) has Pro-59. HPA-1A is involved in fetal-maternal alloimmune thromobocytopenia (FMAIT) as well as in neonatal alloimmune thrombocytopenia (NAIT).Position 169 is associated with platelet-specific alloantigen HPA-4 (PEN or YUK). HPA-4A/PEN(A)/YUK(A) has Arg-169 and HPA-4B/PEN(B)/YUK(B) has Gln-169. HPA-4B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP). - Position 433 is associated with platelet-specific alloantigen MO. MO(-) has Pro-433 and MO(+) has Ala-433. MO(+) is involved in NAIT. - Position 515 is associated with platelet-specific alloantigen CA/TU. CA(-)/TU(-) has Arg-515 and CA(+)/TU(+) has Gln-515. CA(+) is involved in NAIT. - Position 662 is associated with platelet-specific alloantigen SR(A). SR(A)(-) has Arg-662 and SR(A)(+) has Cys-662. - Additional information on the polymorphism described.
Variant description:

In alloantigen SR(A). Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs151219882 [ dbSNP | Ensembl ]

Sequence information Variant position:

662 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:

ECKKFDRGALHDENTCNRYC R DEIESVKELKDTGKDAVNCT 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                         ECKKFDRGALHDENTCNRYCRDEIESVKELKDTGKDAVNCT

Mouse                         ECKKFNRGTLHEENTCSRYCRDDIEQVKELTDTGKNAVNCT

Rat                           ECKKFNRGKLHEENNCNRFCRDDIELVKELTDTGKNAVNCT

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
Glycosylation	680 – 680	N-linked (GlcNAc...) asparagine
Disulfide bond	634 – 681
Mutagenesis	659 – 659	R -> A. Slight increase in ligand-binding activity; when associated with 698-D--K-702 del.

Literature citations
A point mutation leads to an unpaired cysteine residue and a molecular weight polymorphism of a functional platelet beta 3 integrin subunit. The Sra alloantigen system of GPIIIa.
Santoso S.; Kalb R.; Kroll H.; Walka M.; Kiefel V.; Mueller-Eckhardt C.; Newman P.J.;
J. Biol. Chem. 269:8439-8444(1994)
Cited for: VARIANT SR(A) CYS-662; DESCRIPTION OF ALLOANTIGEN SYSTEM SR(A);

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.