Variant position: 1075 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 AVKTVNESASLRERIEFLNE ASVMKGFTCHHVVRLLGVVSK
Mouse AVKTVNESASLRERIEFLNE ASVMKGFTCHHVVRLLGVVSK
Rat AVKTVNESASLRERIEFLNE ASVMKGFTCHHVVRLLGVVSK
Xenopus laevis AVKTVNESASLRERIEFLNE ASVMKAFNCHHVVRLLGVVSK
Caenorhabditis elegans AIKINVDDPASTENLNYLME ANIMKNFKTNFIVKLYGVIST
Drosophila AIKTVNENATDRERTNFLSE ASVMKEFDTYHVVRLLGVCSR
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
1057 – 1057 ATP
1057 – 1057 K -> A. Abolishes the kinase activity and abolishes interaction with IRS1, SHC1, GRB7 and PIK3R1.
1057 – 1057 K -> MR. Abolishes the kinase activity.
1065 – 1078
Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance.
Haruta T.; Takata Y.; Iwanishi M.; Maegawa H.; Imamura T.; Egawa K.; Itazu T.; Kobayashi M.;
Cited for: VARIANT IRAN TYPE A ASP-1075;
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