Variant position: 1220 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 VRWMAPESLKDGVFTTSSDM WSFGVVLWEITSLAEQPYQGL
Mouse VRWMSPESLKDGVFTASSDM WSFGVVLWEITSLAEQPYQGL
Rat VRWMSPESLKDGVFTASSDM WSFGVVLWEITSLAEQPYQGL
Xenopus laevis VRWMSPESLKDGVFTAFSDV WSFGVVLWEITSLAEQPYQGL
Caenorhabditis elegans VRWMSPESLKDGKFDSKSDV WSFGVVLYEMVTLGAQPYIGL
Drosophila VRWMPPESLRDGVYSSASDV FSFGVVLWEMATLAAQPYQGL
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.
A mutation (Trp1193-->Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance.
Iwanishi M.; Haruta T.; Takata Y.; Ishibashi O.; Sasaoka T.; Egawa K.; Imamura T.; Naitou K.; Itazu T.; Kobayashi M.;
Cited for: VARIANT INS RESISTANCE LEU-1220;
Two naturally occurring mutations in the kinase domain of insulin receptor accelerate degradation of the insulin receptor and impair the kinase activity.
Imamura T.; Takata Y.; Sasaoka T.; Takada Y.; Morioka H.; Haruta T.; Sawa T.; Iwanishi M.; Hu Y.G.; Suzuki Y.; Hamada J.; Kobayashi M.;
J. Biol. Chem. 269:31019-31027(1994)
Cited for: CHARACTERIZATION OF VARIANTS IRAN TYPE A ASP-1206 AND LEU-1220;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.