UniProtKB/Swiss-Prot P05106: Variant p.Thr166Ile

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

166 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 Isoleucine (I) at position 166 (T166I, p.Thr166Ile). 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 medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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:

Probable risk factor for neonatal thrombocytopenia; alloantigen Duv(a+); does not affect significantly the integrin function. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs74708909 [ dbSNP | Ensembl ]

Sequence information Variant position:

166 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:

LSYSMKDDLWSIQNLGTKLA T QMRKLTSNLRIGFGAFVDKP 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                         LSYSMKDDLWSIQNLGTKLATQMRKLTSNLRIGFGAFVDKP

Mouse                         LSFSMKDDLSSIQTLGTKLASQMRKLTSNLRIGFGAFVDKP

Rat                           LSFSMKDDLSSIQTLGTKLASQMRKLTSNLRIGFGAFVDKP

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
Domain	135 – 377	VWFA
Binding site	147 – 147	in MIDAS binding site
Binding site	149 – 149	in ADMIDAS binding site
Binding site	149 – 149	in MIDAS binding site
Binding site	152 – 152	in ADMIDAS binding site
Binding site	153 – 153	in ADMIDAS binding site
Binding site	184 – 184	in LIMBS binding site
Disulfide bond	39 – 461
Helix	160 – 168

Literature citations
A new platelet polymorphism Duv(a+), localized within the RGD binding domain of glycoprotein IIIa, is associated with neonatal thrombocytopenia.
Jallu V.; Meunier M.; Brement M.; Kaplan C.;
Blood 99:4449-4456(2002)
Cited for: VARIANT ILE-166; CHARACTERIZATION OF VARIANT ILE-166;

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.