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NM_001170.1(AQP7):c.791G>T (p.Gly264Val) AND GLYCEROL QUANTITATIVE TRAIT LOCUS

Germline classification:
Affects (1 submission)
Last evaluated:
Jan 1, 2013
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:
RCV000023224.13

Allele description [Variation Report for NM_001170.1(AQP7):c.791G>T (p.Gly264Val)]

NM_001170.1(AQP7):c.791G>T (p.Gly264Val)

Gene:
AQP7:aquaporin 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_001170.1(AQP7):c.791G>T (p.Gly264Val)
HGVS:
  • NC_000009.12:g.33385243C>A
  • NG_027764.1:g.22277G>T
  • NM_001170.3:c.791G>TMANE SELECT
  • NM_001318156.2:c.573-12G>T
  • NM_001318157.2:c.*375G>T
  • NM_001318158.2:c.*375G>T
  • NM_001376191.1:c.791G>T
  • NM_001376192.1:c.744-12G>T
  • NM_001376193.1:c.744-12G>T
  • NP_001161.1:p.Gly264Val
  • NP_001363120.1:p.Gly264Val
  • NC_000009.11:g.33385241C>A
  • NM_001170.1:c.791G>T
  • NR_134513.2:n.1127G>T
  • NR_134514.2:n.1246G>T
  • NR_134515.2:n.1397G>T
  • NR_164778.1:n.1025G>T
  • NR_164779.1:n.770G>T
  • O14520:p.Gly264Val
Protein change:
G264V; GLY264VAL
Links:
UniProtKB: O14520#VAR_067255; OMIM: 602974.0001; dbSNP: rs62542743
NCBI 1000 Genomes Browser:
rs62542743
Molecular consequence:
  • NM_001318157.2:c.*375G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001318158.2:c.*375G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001318156.2:c.573-12G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376192.1:c.744-12G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376193.1:c.744-12G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001170.3:c.791G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376191.1:c.791G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134513.2:n.1127G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134514.2:n.1246G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134515.2:n.1397G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164778.1:n.1025G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164779.1:n.770G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
GLYCEROL QUANTITATIVE TRAIT LOCUS (GLYCQTL)
Synonyms:
Glycerol release during exercise, defective
Identifiers:
MedGen: C3280715; OMIM: 614411

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044515OMIM
no assertion criteria provided
Affects
(Jan 1, 2013) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation.

Kondo H, Shimomura I, Kishida K, Kuriyama H, Makino Y, Nishizawa H, Matsuda M, Maeda N, Nagaretani H, Kihara S, Kurachi Y, Nakamura T, Funahashi T, Matsuzawa Y.

Eur J Biochem. 2002 Apr;269(7):1814-26.

PubMed [citation]
PMID:
11952783

Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes.

Ceperuelo-Mallafré V, Miranda M, Chacón MR, Vilarrasa N, Megia A, Gutiérrez C, Fernández-Real JM, Gómez JM, Caubet E, Frühbeck G, Vendrell J.

J Clin Endocrinol Metab. 2007 Sep;92(9):3640-5. Epub 2007 Jun 12.

PubMed [citation]
PMID:
17566090
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000044515.3

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

Description

In a 48-year-old Japanese man who exhibited greatly diminished glycerol release during exercise (GLYCQTL; 614411) despite a normal increase in plasma noradrenaline, Kondo et al. (2002) identified homozygosity for a 963G-T transversion in exon 8 of the AQP7 gene, resulting in a gly264-to-val (G264V) substitution at a conserved residue in the sixth transmembrane domain. The man had a normal body mass index and normal plasma glucose level. Functional analysis in Xenopus oocytes showed that AQP7 with the G264V mutation could not transport glycerol or water.

In an obese (see 614411) Spanish patient with type 2 diabetes (see 125853) who also had glycerol levels below the 10th percentile, Ceperuelo-Mallafre et al. (2007) identified homozygosity for the G264V mutation in the AQP7 gene. In addition, 13 (7%) of 177 other individuals tested were heterozygous for G264V. There was no difference in distribution of the mutation between lean and obese individuals or between individuals with type 2 diabetes and nondiabetics.

Goubau et al. (2013) screened 3 unrelated children with psychomotor retardation of variable severity and hyperglyceroluria for AQP7 mutations. All 3 index patients were homozygous for the AQP7 G264V mutation; all had a subclinical platelet secretion defect which reduced ATP secretion, indicated by the absence of a secondary aggregation wave after epinephrine stimulation. Electron microscopy revealed round platelets with centrally located granules. Immunostaining showed AQP7 colocalization with dense granules, and immunoblot analysis detected release of AQP7 from platelets following stimulation with strong agonists. Three asymptomatic relatives carrying the homozygous G264V mutation showed hyperglyceroluria and platelet granule abnormalities on testing. Goubau et al. (2013) conclude that AQP7 is associated with urine glycerol levels and platelet secretion.

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

Last Updated: Nov 10, 2024