NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) AND Hyperinsulinemic hypoglycemia familial 5

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2004)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000125461.5

Allele description [Variation Report for NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)]

NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)

Gene:
INSR:insulin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)
Other names:
R1174Q
HGVS:
  • NC_000019.10:g.7120677C>T
  • NG_008852.2:g.178324G>A
  • NM_000208.4:c.3602G>AMANE SELECT
  • NM_001079817.3:c.3566G>A
  • NP_000199.2:p.Arg1201Gln
  • NP_001073285.1:p.Arg1189Gln
  • NC_000019.9:g.7120688C>T
  • P06213:p.Arg1201Gln
Protein change:
R1189Q; ARG1174GLN
Links:
UniProtKB: P06213#VAR_015929; OMIM: 147670.0030; OMIM: 147670.0037; dbSNP: rs121913156
NCBI 1000 Genomes Browser:
rs121913156
Molecular consequence:
  • NM_000208.4:c.3602G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079817.3:c.3566G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperinsulinemic hypoglycemia familial 5 (HHF5)
Synonyms:
Hyperinsulinism due to glutamodehydrogenase deficiency
Identifiers:
MONDO: MONDO:0012381; MedGen: C1864952; Orphanet: 263458; OMIM: 609968

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000168913OMIMno assertion criteria providedPathogenic
(Jun 1, 2004)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Ardon O, Procter M, Tvrdik T, Longo N, Mao R.

Mol Genet Metab Rep. 2014;1:71-84.

PubMed [citation]
PMID:
27896077
PMCID:
PMC5121292

Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

Moller DE, Cohen O, Yamaguchi Y, Assiz R, Grigorescu F, Eberle A, Morrow LA, Moses AC, Flier JS.

Diabetes. 1994 Feb;43(2):247-55.

PubMed [citation]
PMID:
8288049
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000168913.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Ardon et al. (2014) stated that this mutation is c.3602G-A in exon 20 and results in an amino acid change arg1201 to gln (R1201Q), according to a revised INSR sequence (GenBank NC_000019).

Among 22 unrelated women with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (manifested by hyperandrogenemia, oligoamenorrhea, and hirsutism; 610549), Moller et al. (1994) found heterozygosity for a CGG-to-CAG transition in exon 20 of the INSR gene, resulting in an arg1174-to-gln (ARG1174GLN, R1174Q) amino acid substitution. The mutation involved the intracellular receptor beta subunit. The mutation was found in an affected sister, whereas it was absent in the unaffected mother. It was probably present in 2 paternal aunts who were reportedly affected. Thus, arg1174 to gln, involving the insulin receptor tyrosine kinase domain, is a cause of dominantly inherited insulin resistance.

In all affected members of a 3-generation Danish family with hyperinsulinemic hypoglycemia (609968), Hojlund et al. (2004) identified heterozygosity for a G-A transition at codon 1174 in exon 20 of the INSR gene, resulting in an arg1174-to-gln (R1174Q) substitution. The mutation was not found in any unaffected family members.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 7, 2021

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