Variant position: 1205 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 YETDYYRKGGKGLLPVRWMA PESLKDGVFTTSSDMWSFGVV
Mouse YETDYYRKGGKGLLPVRWMS PESLKDGVFTASSDMWSFGVV
Rat YETDYYRKGGKGLLPVRWMS PESLKDGVFTASSDMWSFGVV
Xenopus laevis YETDYYRKGGKGLLPVRWMS PESLKDGVFTAFSDVWSFGVV
Caenorhabditis elegans FYHDYYKPSGKRMMPVRWMS PESLKDGKFDSKSDVWSFGVV
Drosophila YETDYYRKGTKGLLPVRWMP PESLRDGVYSSASDVFSFGVV
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
1185 – 1185 Phosphotyrosine; by autocatalysis
1189 – 1189 Phosphotyrosine; by autocatalysis
1190 – 1190 Phosphotyrosine; by autocatalysis
1189 – 1189 Y -> F. Reduced interaction with GRB7.
1190 – 1190 Y -> F. Strongly reduced interaction with GRB7.
1205 – 1210
Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms.
Kim H.; Kadowaki H.; Sakura H.; Odawara M.; Momomura K.; Takahashi Y.; Miyazaki Y.; Ohtani T.; Akanuma Y.; Yazaki Y.; Kasuga M.; Taylor S.I.; Kadowaki T.;
Cited for: VARIANT IRAN TYPE A LEU-1205;
Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.
Krook A.; Kumar S.; Laing I.; Boulton A.J.; Wass J.A.; O'Rahilly S.;
Cited for: VARIANT RMS SYNDROME LEU-350; VARIANTS IRAN TYPE A LEU-1205 AND GLN-1378; VARIANT MET-1012;
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