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NM_138711.6(PPARG):c.490C>T (p.Arg164Trp) AND PPARG-related familial partial lipodystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2007
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:
RCV000008621.2

Allele description [Variation Report for NM_138711.6(PPARG):c.490C>T (p.Arg164Trp)]

NM_138711.6(PPARG):c.490C>T (p.Arg164Trp)

Gene:
PPARG:peroxisome proliferator activated receptor gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.2
Genomic location:
Preferred name:
NM_138711.6(PPARG):c.490C>T (p.Arg164Trp)
HGVS:
  • NC_000003.12:g.12392713C>T
  • NG_011749.1:g.109864C>T
  • NM_001330615.4:c.490C>T
  • NM_001354666.3:c.490C>T
  • NM_001354667.3:c.490C>T
  • NM_001354668.2:c.580C>T
  • NM_001354669.2:c.63C>T
  • NM_001354670.2:c.496C>T
  • NM_001374261.3:c.490C>T
  • NM_001374262.3:c.490C>T
  • NM_001374263.2:c.490C>T
  • NM_001374264.2:c.490C>T
  • NM_001374265.1:c.580C>T
  • NM_001374266.1:c.496C>T
  • NM_005037.7:c.490C>T
  • NM_015869.5:c.580C>T
  • NM_138711.6:c.490C>TMANE SELECT
  • NM_138712.5:c.490C>T
  • NP_001317544.2:p.Arg164Trp
  • NP_001341595.2:p.Arg164Trp
  • NP_001341596.2:p.Arg164Trp
  • NP_001341597.1:p.Arg194Trp
  • NP_001341598.1:p.Val21=
  • NP_001341599.1:p.Arg166Trp
  • NP_001361190.2:p.Arg164Trp
  • NP_001361191.2:p.Arg164Trp
  • NP_001361192.2:p.Arg164Trp
  • NP_001361193.2:p.Arg164Trp
  • NP_001361194.1:p.Arg194Trp
  • NP_001361195.1:p.Arg166Trp
  • NP_005028.5:p.Arg164Trp
  • NP_056953.2:p.Arg194Trp
  • NP_619725.3:p.Arg164Trp
  • NP_619726.3:p.Arg164Trp
  • NC_000003.11:g.12434212C>T
Protein change:
R164W; ARG194TRP
Links:
OMIM: 601487.0015; dbSNP: rs121909246
NCBI 1000 Genomes Browser:
rs121909246
Molecular consequence:
  • NM_001330615.4:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354666.3:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354667.3:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354668.2:c.580C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354670.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374261.3:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374262.3:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374263.2:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374264.2:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374265.1:c.580C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374266.1:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005037.7:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015869.5:c.580C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138711.6:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138712.5:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354669.2:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
PPARG-related familial partial lipodystrophy
Synonyms:
LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS; Familial partial lipodystrophy 3
Identifiers:
MONDO: MONDO:0011448; MedGen: C1720861; Orphanet: 79083; OMIM: 604367

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028829OMIM
no assertion criteria provided
Pathogenic
(May 1, 2007) 		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

Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma.

Monajemi H, Zhang L, Li G, Jeninga EH, Cao H, Maas M, Brouwer CB, Kalkhoven E, Stroes E, Hegele RA, Leff T.

J Clin Endocrinol Metab. 2007 May;92(5):1606-12. Epub 2007 Feb 13.

PubMed [citation]
PMID:
17299075

Details of each submission

From OMIM, SCV000028829.1

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

Description

In a 31-year-old woman with familial partial lipodystrophy (604367), i.e., lipodystrophy and early childhood diabetes with extreme insulin resistance and hypertriglyceridemia leading to recurrent pancreatitis, Monajemi et al. (2007) identified heterozygosity for a 1762 C-to-T transition in the PPARG gene, resulting in an arg194-to-trp (R194W) substitution in the PPAR-gamma isoform-2, a conserved residue located in the zinc finger structure involved in DNA binding. The mutation was not found in 100 healthy Caucasians. In vitro analysis of the mutated protein showed that R194W (R166W in the PPAR-gamma isoform-1) could not bind to DNA and had no transcriptional activity. Furthermore, R194W had no dominant-negative activity. Monajemi et al. (2007) concluded that the R194W mutation disrupts DNA-binding activity and through haploinsufficiency leads to the clinical manifestations of FPLD3 and the associated metabolic disturbances.

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

Last Updated: Apr 23, 2022