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NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser) AND Mental retardation, X-linked, syndromic, wu type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 13, 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:
RCV000011070.3

Allele description

NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser)

Gene:
GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq25
Genomic location:
Preferred name:
NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser)
HGVS:
  • NC_000023.11:g.123427954C>A
  • NG_009377.2:g.248712C>A
  • NM_000828.4:c.1891C>A
  • NM_007325.5:c.1891C>AMANE SELECT
  • NP_000819.3:p.Arg631Ser
  • NP_015564.5:p.Arg631Ser
  • NC_000023.10:g.122561805C>A
  • P42263:p.Arg631Ser
Protein change:
R631S; ARG631SER
Links:
UniProtKB: P42263#VAR_043485; OMIM: 305915.0002; dbSNP: rs137852351
NCBI 1000 Genomes Browser:
rs137852351
Molecular consequence:
  • NM_000828.4:c.1891C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007325.5:c.1891C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mental retardation, X-linked, syndromic, wu type (MRXSW)
Synonyms:
MENTAL RETARDATION, X-LINKED, SYNDROMIC 29
Identifiers:
MONDO: MONDO:0010402; MedGen: C2678051; OMIM: 300699

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031297OMIM
no assertion criteria provided
Pathogenic
(Nov 13, 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

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.

Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, Stratton M, Futreal A, Gecz J, Stevenson R, Schwartz CE, Valle D, Huganir RL, et al.

Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18163-8. Epub 2007 Nov 7.

PubMed [citation]
PMID:
17989220
PMCID:
PMC2084314

Details of each submission

From OMIM, SCV000031297.1

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

Description

In 4 affected males of a family with MRX94 (300699), Wu et al. (2007) identified a hemizygous C-to-A transversion in the GRIA3 gene, resulting in an arg631-to-ser (R631S) substitution in a conserved residue at the edge of TM3 facing the cytoplasm and close to the predicted channel core. The patients had moderate MR and an asthenic body habitus. The mutation was not identified in 500 male controls. In vitro functional expression studies showed that homomeric R631S mutant receptors had minimal or no current. Heteromeric GRIA2 (138247)/R631S receptors had altered desensitization kinetics.

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

Last Updated: Aug 20, 2020