UniProtKB/Swiss-Prot P07359 : Variant p.Leu86Phe
Platelet glycoprotein Ib alpha chain
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Variant information
Variant position:
86
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
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:
86 (L86F, p.Leu86Phe).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Polymorphism:
1586750 ). Siba(-) has Thr-161 and Siba(+) has Met-161 (PubMed:1586750 ). Siba is involved in neonatal alloimmune thrombocytopenia (NATP) (PubMed:1586750 , PubMed:7632942 ).Polymorphisms arise from a variable number of tandem 13-amino acid repeats of S-E-P-A-P-S-P-T-T-P-E-P-T in the mucin-like macroglycopeptide (Pro/Thr-rich) domain (PubMed:1577776 , PubMed:7632942 ). Allele D contains one repeat starting at position 415, allele C contains two repeats, allele B (shown here) contains three repeats and allele A contains four repeats (PubMed:1577776 ). Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy (PubMed:1577776 ). -
Additional information on the polymorphism described.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
86
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
652
The length of the canonical sequence.
Location on the sequence:
L QVDGTLPVLGTLDLSHNQLQ
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 TLMPYTRLTQLNLDRCELTKL QVDGTLPVLGTLDLSHNQLQ
LLGPLTRLAQLHLRQSQLTQL QVDGMLPRLETLDVSHNRLK
Mouse SLVHFTHLTYLYLDRCELTSL QTNGKLIKLENLDLSHNNLK
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.
Literature citations
A novel polymorphism, 70Leu/Phe, disrupts a consensus Leu residue within the leucine-rich repeat sequence of platelet glycoprotein Ibalpha.
Matsubara Y.; Murata M.; Moriki T.; Yokoyama K.; Watanabe N.; Nakajima H.; Handa M.; Kawano K.; Aoki N.; Yoshino H.; Ikeda Y.;
Thromb. Haemost. 87:867-872(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PHE-86;
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.
