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NM_003051.4(SLC16A1):c.610A>G (p.Lys204Glu) AND Metabolic myopathy due to lactate transporter defect

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2000
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:
RCV000009469.4

Allele description [Variation Report for NM_003051.4(SLC16A1):c.610A>G (p.Lys204Glu)]

NM_003051.4(SLC16A1):c.610A>G (p.Lys204Glu)

Gene:
SLC16A1:solute carrier family 16 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_003051.4(SLC16A1):c.610A>G (p.Lys204Glu)
HGVS:
  • NC_000001.11:g.112917796T>C
  • NG_015880.2:g.43133A>G
  • NM_001166496.2:c.610A>G
  • NM_003051.4:c.610A>GMANE SELECT
  • NP_001159968.1:p.Lys204Glu
  • NP_003042.3:p.Lys204Glu
  • NC_000001.10:g.113460418T>C
  • P53985:p.Lys204Glu
Protein change:
K204E; LYS204GLU
Links:
UniProtKB: P53985#VAR_010434; OMIM: 600682.0001; dbSNP: rs80358222
NCBI 1000 Genomes Browser:
rs80358222
Molecular consequence:
  • NM_001166496.2:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003051.4:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Metabolic myopathy due to lactate transporter defect
Synonyms:
LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO; Erythrocyte lactate transporter defect
Identifiers:
MONDO: MONDO:0009501; MedGen: C1855577; OMIM: 245340

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029687OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2000) 		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

Lactate transporter defect: a new disease of muscle.

Fishbein WN.

Science. 1986 Dec 5;234(4781):1254-6.

PubMed [citation]
PMID:
3775384

Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.

Merezhinskaya N, Fishbein WN, Davis JI, Foellmer JW.

Muscle Nerve. 2000 Jan;23(1):90-7.

PubMed [citation]
PMID:
10590411

Details of each submission

From OMIM, SCV000029687.2

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

Description

In a patient with erythrocyte lactate transporter defect (245340) originally reported by Fishbein (1986), Merezhinskaya et al. (2000) identified a heterozygous 610A-G transition in the SLC16A1 gene, resulting in a lys204-to-glu (K204E) substitution in a highly conserved residue. The substitution occurs in the early part of the large central cytoplasmic loop between transmembrane segments 6 and 7. The substitution was not identified in 90 healthy control individuals. Erythrocyte lactate clearance was 40 to 50% that of normal control values.

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

Last Updated: Sep 29, 2024