Variant position: 1020 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1382 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 LSASDVFPCSVYVPDEWEVS REKITLLRELGQGSFGMVYEG
Mouse LSASDVFPSSVYVPDEWEVP REKITLLRELGQGSFGMVYEG
Rat LSASDVFPSSVYVPDEWEVP REKITLLRELGQGSFGMVYEG
Xenopus laevis LSASE-----VYIPDEWEVP RDKINLLRELGQGSFGMVYEG
Caenorhabditis elegans CVDN------KYNADDWELR QDDVVLGQQCGEGSFGKVYLG
Drosophila ASM-------QYIPDDWEVL RENIIQLAPLGQGSFGMVYEG
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
763 – 1382 Insulin receptor subunit beta
980 – 1382 Cytoplasmic
1033 – 1033 ATP
1011 – 1011 Phosphotyrosine; by autocatalysis
1000 – 1000 L -> AR. Severely reduces interaction with SHC1. Has no effect on interaction with IRS1.
1002 – 1002 A -> D. Reduces interaction with IRS1 but has no effect on interaction with SHC1.
1011 – 1011 Y -> A. Increases kinase activity.
1020 – 1022
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.
Kusari J.; Takata Y.; Hatada E.; Freidenberg G.; Kolterman O.; Olefsky J.M.;
J. Biol. Chem. 266:5260-5267(1991)
Cited for: VARIANT IRAN TYPE A GLN-1020;
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