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NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp) AND Hereditary acrodermatitis enteropathica

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2002
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:
RCV000003720.3

Allele description [Variation Report for NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)]

NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)

Gene:
SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)
HGVS:
  • NC_000008.11:g.144414422C>T
  • NG_012234.2:g.7469G>A
  • NM_017767.3:c.914G>A
  • NM_130849.4:c.989G>AMANE SELECT
  • NP_060237.3:p.Gly305Asp
  • NP_570901.3:p.Gly330Asp
  • NC_000008.10:g.145639806C>T
Protein change:
G305D; GLY330ASP
Links:
OMIM: 607059.0009; dbSNP: rs121434291
NCBI 1000 Genomes Browser:
rs121434291
Molecular consequence:
  • NM_017767.3:c.914G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130849.4:c.989G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary acrodermatitis enteropathica (AEZ)
Synonyms:
Acrodermatitis enteropathica; Acrodermatitis enteropathica zinc deficiency type; Brandt syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008713; MedGen: C0221036; Orphanet: 37; OMIM: 201100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023883OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2002) 		germlineliterature only

PubMed (2)
[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

Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3.

Wang K, Pugh EW, Griffen S, Doheny KF, Mostafa WZ, al-Aboosi MM, el-Shanti H, Gitschier J.

Am J Hum Genet. 2001 Apr;68(4):1055-60. Epub 2001 Mar 12.

PubMed [citation]
PMID:
11254458
PMCID:
PMC1275625

A novel member of a zinc transporter family is defective in acrodermatitis enteropathica.

Wang K, Zhou B, Kuo YM, Zemansky J, Gitschier J.

Am J Hum Genet. 2002 Jul;71(1):66-73. Epub 2002 May 24.

PubMed [citation]
PMID:
12032886
PMCID:
PMC419995

Details of each submission

From OMIM, SCV000023883.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 4 of 6 consanguineous Middle Eastern kindreds in which Wang et al. (2001) had previously mapped acrodermatitis enteropathica (AEZ; 201100) to 8q24.3, Wang et al. (2002) discovered distinct homozygous missense mutations. Three of these mutations involved substitutions of highly conserved amino acids in transmembrane domains. One of these, found in an Egyptian pedigree, was gly330 to asp (G330D), located in exon 6 of the SLC39A4 gene.

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

Last Updated: Apr 23, 2022