Variant position: 1180 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 LAARNCMVAHDFTVKIGDFG MTRDIYETDYYRKGGKGLLPV
Mouse LAARNCMVAHDFTVKIGDFG MTRDIYETDYYRKGGKGLLPV
Rat LAARNCMVAHDFTVKIGDFG MTRDIYETDYYRKGGKGLLPV
Xenopus laevis LAARNCMVADDYAVKIGDFG MTRDIYETDYYRKGGKGLLPV
Caenorhabditis elegans LAARNCMINRDETVKIGDFG MARDLFYHDYYKPSGKRMMPV
Drosophila LAARNCMVADDLTVKIGDFG MTRDIYETDYYRKGTKGLLPV
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
1023 – 1298 Protein kinase
1177 – 1177 ATP
1185 – 1185 Phosphotyrosine; by autocatalysis
1189 – 1189 Phosphotyrosine; by autocatalysis
1190 – 1190 Phosphotyrosine; by autocatalysis
1163 – 1163 R -> Q. Loss of kinase activity.
1189 – 1189 Y -> F. Reduced interaction with GRB7.
1190 – 1190 Y -> F. Strongly reduced interaction with GRB7.
A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman.
Cama A.; de la Luz Sierra M.; Ottini L.; Kadowaki T.; Gorden P.; Imperato-Mcginley J.; Taylor S.I.;
J. Clin. Endocrinol. Metab. 73:894-901(1991)
Cited for: VARIANT INS RESISTANCE ILE-1180;
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