Variant position: 279 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 YLDGRCVETCPPPYYHFQDW RCVNFSFCQDLHHKCKNSRRQ
Mouse YLDGQCVETCPPPYYHFQDW RCVNFSFCQDLHFKCRNSRKP
Rat YLDGQCVETCPPPYYHFQDW RCVNFSFCQDLHYKCRNSRKP
Xenopus laevis QNEGVCVTACPKGSYQFQGW RCIDFNTCQELNSRCQNSRDN
Caenorhabditis elegans YHKGKCIEKCDAHLYLLLQR RCVTREQCLQLNPVLSNKTVP
Drosophila SFNNICMDSCPKGYYQF-DS RCVTANECITLTKFETNSVYS
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
28 – 758 Insulin receptor subunit alpha
28 – 758 Extracellular
282 – 282 N-linked (GlcNAc...) asparagine
268 – 280
279 – 281
An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.
Hamer I.; Foti M.; Emkey R.; Cordier-Bussat M.; Philippe J.; De Meyts P.; Maeder C.; Kahn C.R.; Carpentier J.-L.;
Cited for: VARIANT IRAN TYPE A CYS-279;
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