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NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys) AND Diastrophic dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2008
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:
RCV000004315.4

Allele description [Variation Report for NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys)]

NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys)

Gene:
SLC26A2:solute carrier family 26 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys)
HGVS:
  • NC_000005.10:g.149981128C>A
  • NG_007147.2:g.22246C>A
  • NM_000112.4:c.1535C>AMANE SELECT
  • NP_000103.2:p.Thr512Lys
  • LRG_684:g.22246C>A
  • NC_000005.9:g.149360691C>A
Protein change:
T512K; THR512LYS
Links:
OMIM: 606718.0013; dbSNP: rs121908078
NCBI 1000 Genomes Browser:
rs121908078
Molecular consequence:
  • NM_000112.4:c.1535C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Diastrophic dysplasia (DTD)
Synonyms:
Diastrophic dwarfism
Identifiers:
MONDO: MONDO:0009107; MedGen: C0220726; Orphanet: 628; OMIM: 222600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024486OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2008) 		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

[A rare lethal bone dysplasia with recessive autosomic transmission].

De la Chapelle A, Maroteaux P, Havu N, Granroth G.

Arch Fr Pediatr. 1972 Aug-Sep;29(7):759-70. French. No abstract available.

PubMed [citation]
PMID:
4644462

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Bonafé L, Hästbacka J, de la Chapelle A, Campos-Xavier AB, Chiesa C, Forlino A, Superti-Furga A, Rossi A.

J Med Genet. 2008 Dec;45(12):827-31. doi: 10.1136/jmg.2007.057158. Epub 2008 Aug 15.

PubMed [citation]
PMID:
18708426
PMCID:
PMC4361899

Details of each submission

From OMIM, SCV000024486.3

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

Description

In affected members of the original family with de la Chapelle dysplasia (DLCD; see 256050) (de la Chapelle et al., 1972), Bonafe et al. (2008) identified a homozygous 1535C-A transversion in the SLC26A2 gene, resulting in a thr512-to-lys (T512K) substitution in the sixth cytoplasmic domain. In 7 Finnish individuals with diastrophic dysplasia (DTD; 222600), Bonafe et al. (2008) found compound heterozygosity for the T512K mutation and the common Finnish mutation (606718.0010). In vitro functional expression studies in Chinese hamster ovary cells showed that the T512K-mutant protein had no sulfate uptake. The T512K mutation was not identified in 200 unrelated Finnish controls and 150 non-Finnish Caucasian controls.

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

Last Updated: Sep 29, 2024