Variant position: 133 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 206 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 YRDLRCVAPPALRGRLLPYL AEDELRAACAPGPLCWGALAA
Mouse YRDLRCVAPPALRGRLLPYV AEDELRAACAPGLLCWGALVA
Rat YRDLRCVAPLALRGRLLPYV AEDELRAACAPGLLCWGALVA
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
26 – 206 Platelet glycoprotein Ib beta chain
27 – 147 Extracellular
89 – 143 LRRCT
95 – 141
147 – 147 Interchain (with C-500 or C-501 in GP1BA)
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.
Kunishima S.; Lopez J.A.; Kobayashi S.; Imai N.; Kamiya T.; Saito H.; Naoe T.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 11-206; VARIANTS BSS CYS-113 AND PRO-133;
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