Variant position: 1055 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 GMVYEGNARDIIK--GEAETRV AVKTVNESASLRERIEFLNEA
Mouse GMVYEGNAKDIIK--GEAETRV AVKTVNESASLRERIEFLN
Rat GMVYEGNAKDIIK--GEVETRV AVKTVNESASLRERIEFLN
Xenopus laevis GMVYEGIAKDIIK--GEPEVRV AVKTVNESASLRERIEFLN
Caenorhabditis elegans GKVYLGTGNNVVSLMGDRFGPC AIKINVDDPASTENLNYLM
Drosophila GMVYEGILKSFPP--NGVDREC AIKTVNENATDRERTNFLS
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.
1050 – 1057
Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.
Rique S.; Nogues C.; Ibanez L.; Marcos M.V.; Ferragut J.; Carrascosa A.; Potau N.;
Clin. Genet. 57:67-69(2000)
Cited for: VARIANTS IRAN TYPE A LEU-167 AND VAL-1055;
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