Variant position: 172 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:
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 LKTLPPGLLTPTPKLEKLSL ANNNLTELPAGLLNGLENLDT
Mouse LKSLPPGLLLPTTKLKKLNL ANNKLRELPSGLLDGLEDLDT
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
17 – 652 Platelet glycoprotein Ib alpha chain
17 – 506 Glycocalicin
17 – 531 Extracellular
165 – 186 LRR 6
175 – 175 N-linked (GlcNAc...) asparagine
Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.
Ware J.; Russell S.R.; Marchese P.; Murata M.; Mazzucato M.; de Marco L.; Ruggeri Z.M.;
J. Clin. Invest. 92:1213-1220(1993)
Cited for: VARIANT BSS VAL-172;
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.
Savoia A.; Balduini C.L.; Savino M.; Noris P.; Del Vecchio M.; Perrotta S.; Belletti S.; Poggi V.; Iolascon A.;
Cited for: VARIANT BSSA2 VAL-172;
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