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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06213: Variant p.Leu120Gln

Insulin receptor
Gene: INSR
Variant information Variant position: help 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Leucine (L) to Glutamine (Q) at position 120 (L120Q, p.Leu120Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (L) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In LEPRCH; inhibits receptor processing. Any additional useful information about the variant.

Sequence information Variant position: help 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1382 The length of the canonical sequence.
Location on the sequence: help KDLFPNLTVIRGSRLFFNYA L VIFEMVHLKELGLYNLMNIT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.






Sequence annotation in neighborhood: help 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.
Chain 28 – 758 Insulin receptor subunit alpha
Topological domain 28 – 758 Extracellular
Glycosylation 105 – 105 N-linked (GlcNAc...) asparagine
Glycosylation 138 – 138 N-linked (GlcNAc...) asparagine
Beta strand 118 – 124

Literature citations
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.;
Diabetes 43:247-255(1994)
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.;
Diabetes 53:1592-1598(2004)
Cited for: VARIANT HHF5 GLN-1201;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.