Variant position: 306 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:
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 GRLAGIVQPNDGQCHVGSDN HYSASTTMDYPSLGLMTEKLS
Mouse GRLAGIVLPNDGHCHIGTDN HYSASTTMDYPSLGLMTEKLS
Rat GRLAGIVLPNDGRCHIGPDN HYSASTTMDYPSLGLMTEKLS
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.
Three novel integrin beta3 subunit missense mutations (H280P, C560F, and G579S) in thrombasthenia, including one (H280P) prevalent in Japanese patients.
Ambo H.; Kamata T.; Handa M.; Taki M.; Kuwajima M.; Kawai Y.; Oda A.; Murata M.; Takada Y.; Watanabe K.; Ikeda Y.;
Biochem. Biophys. Res. Commun. 251:763-768(1998)
Cited for: VARIANTS GT PRO-306; PHE-586; SER-598 AND SER-605;
Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia.
Tanaka S.; Hayashi T.; Yoshimura K.; Nakayama M.; Fujita T.; Amano T.; Tani Y.;
J. Thromb. Haemost. 3:68-73(2005)
Cited for: VARIANTS GT PRO-306 AND ASN-330; CHARACTERIZATION OF VARIANT GT ASN-330;
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