Variant position: 1201 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 TRDIYETDYYRKGGKGLLPV RWMAPESLKDGVFTTSSDMWS
Mouse TRDIYETDYYRKGGKGLLPV RWMSPESLKDGVFTASSDMWS
Rat TRDIYETDYYRKGGKGLLPV RWMSPESLKDGVFTASSDMWS
Xenopus laevis TRDIYETDYYRKGGKGLLPV RWMSPESLKDGVFTAFSDVWS
Caenorhabditis elegans ARDLFYHDYYKPSGKRMMPV RWMSPESLKDGKFDSKSDVWS
Drosophila TRDIYETDYYRKGTKGLLPV RWMPPESLRDGVYSSASDVFS
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.
1200 – 1202
Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.
Moller D.E.; Cohen O.; Yamaguchi Y.; Assiz R.; Grigorescu F.; Eberle A.; Morrow L.A.; Moses A.C.; Flier J.S.;
Cited for: VARIANT IRAN TYPE A GLN-1201;
Functional properties of a heterozygous mutation (Arg1174-->Gln) in the tyrosine kinase domain of the insulin receptor from a type A insulin resistant patient.
Moritz W.; Froesch E.R.; Boeni-Schnetzler M.;
FEBS Lett. 351:276-280(1994)
Cited for: CHARACTERIZATION OF VARIANT IRAN TYPE A GLN-1201;
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.
Hoejlund K.; Hansen T.; Lajer M.; Henriksen J.E.; Levin K.; Lindholm J.; Pedersen O.; Bech-Nielsen H.;
Cited for: VARIANT HHF5 GLN-1201;
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