NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln) AND Type 2 diabetes mellitus

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1995)

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:
RCV000015815.31

Allele description [Variation Report for NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln)]

NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln)

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.3572G>A (p.Arg1191Gln)
HGVS:
  • NC_000019.10:g.7120707C>T
  • NG_008852.2:g.178294G>A
  • NM_000208.4:c.3572G>AMANE SELECT
  • NM_001079817.3:c.3536G>A
  • NP_000199.2:p.Arg1191Gln
  • NP_001073285.1:p.Arg1179Gln
  • NC_000019.9:g.7120718C>T
  • P06213:p.Arg1191Gln
Protein change:
R1179Q; ARG1191GLN
Links:
UniProtKB: P06213#VAR_004098; OMIM: 147670.0021; dbSNP: rs121913150
NCBI 1000 Genomes Browser:
rs121913150
Molecular consequence:
  • NM_000208.4:c.3572G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079817.3:c.3536G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Type 2 diabetes mellitus (T2D)
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO; Type II diabetes mellitus
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036082OMIMno assertion criteria providedPathogenic
(Jan 1, 1995)
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

NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.

Cocozza S, Porcellini A, Riccardi G, Monticelli A, Condorelli G, Ferrara A, Pianese L, Miele C, Capaldo B, Beguinot F, et al.

Diabetes. 1992 Apr;41(4):521-6.

PubMed [citation]
PMID:
1607076
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036082.6

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

Description

Ardon et al. (2014) stated that this mutation is c.3572G-A in exon 20 and results in an amino acid change arg1191 to gln (R1191Q), according to a revised INSR sequence (GenBank NC_000019). Ardon et al. (2014) noted that this mutation has also been classified as arg1164 to gln (R1164Q).

In a patient with noninsulin-dependent diabetes mellitus (125853), Cocozza et al. (1992) identified an abnormality in exon 20 of the INSR gene by denaturing gradient gel electrophoresis (DGGE). Sequencing showed heterozygosity for a change of codon 1152 from CGG to CAG, resulting in replacement of arginine with glutamine (ARG1152GLN, R1152Q). Although autophosphorylation of the purified insulin receptor seemed to be normal and the insulin binding to intact erythrocytes from the patient was in the normal range, the purified insulin receptor showed no detectable activity toward an exogenous substrate.

Esposito et al. (1995) screened a cohort of 68 Italian NIDDM patients and 65 controls for INSR R1152Q and did not find the variant in any patients or controls. The authors concluded that the R1152Q variant is not involved in the development of NIDDM in the Italian population.

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

Last Updated: Nov 20, 2021

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