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NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn) AND Diabetes mellitus type 2, susceptibility to

Germline classification:
risk factor (1 submission)
Last evaluated:
Mar 1, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000005752.4

Allele description [Variation Report for NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn)]

NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn)

Gene:
MAPK8IP1:mitogen-activated protein kinase 8 interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn)
HGVS:
  • NC_000011.10:g.45898159G>A
  • NG_012153.1:g.17509G>A
  • NM_005456.4:c.176G>AMANE SELECT
  • NP_005447.1:p.Ser59Asn
  • NC_000011.9:g.45919710G>A
  • Q9UQF2:p.Ser59Asn
Protein change:
S59N; SER59ASN
Links:
UniProtKB: Q9UQF2#VAR_012243; OMIM: 604641.0001; dbSNP: rs119489103
NCBI 1000 Genomes Browser:
rs119489103
Molecular consequence:
  • NM_005456.4:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Diabetes mellitus type 2, susceptibility to
Identifiers:
MedGen: C3837967

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025934OMIM
no assertion criteria provided
risk factor
(Mar 1, 2000) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes.

Waeber G, Delplanque J, Bonny C, Mooser V, Steinmann M, Widmann C, Maillard A, Miklossy J, Dina C, Hani EH, Vionnet N, Nicod P, Boutin P, Froguel P.

Nat Genet. 2000 Mar;24(3):291-5.

PubMed [citation]
PMID:
10700186

Details of each submission

From OMIM, SCV000025934.3

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

Description

In a family with type 2 diabetes mellitus (T2D; 125853) in individuals in 4 successive generations, Waeber et al. (2000) observed a change of codon 59 in exon 2 of the MAPK8IP1 gene from AGC (ser) to AAC (asn). This serine and the surrounding amino acids are conserved in mouse, rat, and human. The missense mutation was absent from 119 healthy subjects and 436 unrelated subjects with type 2 diabetes. The mutation segregated with diabetes, with all 6 affected members of the family available for study being heterozygous for this mutation. They found 2 nondiabetic subjects, aged 41 and 44 years, who carried the S59N mutation in this pedigree, suggesting that the S59N mutation was not fully penetrant. They also found in some diabetic individuals as well as nondiabetic members of the family a mutation (gln59 to leu) in the IPF1 gene, encoding insulin promoter factor-1 (600733.0003). They suggested that the additional variant in IPF1 may be a genetic modifier for the diabetic phenotype.

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

Last Updated: Jan 26, 2024