Variant position: 120 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 KDLFPNLTVIRGSRLFFNYA LVIFEMVHLKELGLYNLMNIT
Mouse KDLFPNLTVIRGSRLFFNYA LVIFEMVHLKELGLYNLMNIT
Rat KDLFPNLTVIRGSRLFFNYA LVIFEMVHLKELGLYNLMNIT
Xenopus laevis KDLFPNLTVIRGTRLFFNYA LVIFEMVHXKEIGLYNLMNIT
Caenorhabditis elegans RKIFPNLRVIGGRSLIQHYA LIIYRNPDL-EIGLDKLSVIR
Drosophila SKIFPNLSVIRGNKLFDGYA LVVYSNFDLMDLGLHKLRSIT
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
105 – 105 N-linked (GlcNAc...) asparagine
138 – 138 N-linked (GlcNAc...) asparagine
118 – 124
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;
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
Maassen J.A.; Tobias E.S.; Kayserilli H.; Tukel T.; Yuksel-Apak M.; D'Haens E.; Kleijer W.J.; Fery F.; van der Zon G.C.M.;
J. Clin. Endocrinol. Metab. 88:4251-4257(2003)
Cited for: VARIANT IRAN TYPE A HIS-279; VARIANTS LEPRCH GLN-120; LEU-350; ASP-458 AND TRP-1119; CHARACTERIZATION OF VARIANT IRAN TYPE A HIS-279; CHARACTERIZATION OF VARIANTS LEPRCH GLN-120 AND ASP-458;
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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