Variant position: 1026 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1039 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 GGLLLLTILVLAMWKVGFFK RNRPPLEEDDEEGE
Mouse GGLLLLTLLVLAMWKAGFFK RNRPPLEEDEEEE-
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
32 – 1039 Integrin alpha-IIb
891 – 1039 Integrin alpha-IIb light chain, form 1
903 – 1039 Integrin alpha-IIb light chain, form 2
1020 – 1039 Cytoplasmic
1022 – 1026 GFFKR motif
910 – 1039 SCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAWFNVSSLPYAVPPLSLPRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWKVGFFKRNRPPLEEDDEEGE -> VSRLSGLWPGLPGTHGAEGMGGGRGVRVCCGPLWATLGPWEHFK. In isoform 3.
1025 – 1027
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.
Kunishima S.; Kashiwagi H.; Otsu M.; Takayama N.; Eto K.; Onodera M.; Miyajima Y.; Takamatsu Y.; Suzumiya J.; Matsubara K.; Tomiyama Y.; Saito H.;
Cited for: VARIANT BDPLT16 TRP-1026; CHARACTERIZATION OF VARIANT BDPLT16 TRP-1026;
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