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NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met) AND Thyrotoxic periodic paralysis, susceptibility to, 2

Germline classification:
risk factor (1 submission)
Last evaluated:
Jan 8, 2010
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:
RCV000000229.12

Allele description [Variation Report for NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met)]

NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met)

Gene:
KCNJ18:potassium inwardly rectifying channel subfamily J member 18 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met)
HGVS:
  • NC_000017.11:g.21703847C>T
  • NG_033093.1:g.16325C>T
  • NM_001194958.2:c.1061C>TMANE SELECT
  • NP_001181887.2:p.Thr354Met
  • B7U540:p.Thr354Met
Protein change:
T354M; THR354MET
Links:
UniProtKB: B7U540#VAR_063288; OMIM: 613236.0002; dbSNP: rs527236158
NCBI 1000 Genomes Browser:
rs527236158
Molecular consequence:
  • NM_001194958.2:c.1061C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thyrotoxic periodic paralysis, susceptibility to, 2
Synonyms:
Thyrotoxic periodic paralysis 2
Identifiers:
MONDO: MONDO:0013193; MedGen: C2750473; Orphanet: 79102; OMIM: 613239

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020373OMIM
no assertion criteria provided
risk factor
(Jan 8, 2010) 		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 potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH Jr, Ptácek LJ.

Cell. 2010 Jan 8;140(1):88-98. doi: 10.1016/j.cell.2009.12.024.

PubMed [citation]
PMID:
20074522
PMCID:
PMC2885139

Details of each submission

From OMIM, SCV000020373.2

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

Description

In 1 of 30 non-Asian patients with thyrotoxic periodic paralysis-2 (613239), Ryan et al. (2010) identified a 1061C-T transition in the KCNJ18 gene, resulting in a thr354-to-met (T354M) substitution in the intracellular C terminus. The patient was a 23-year-old black man with thyrotoxicosis complicated by quadriplegia and hyporeflexia. The mutation was not found in 281 controls. In vitro functional expression studies in 293T cells showed that the mutant channel had a small decrease in current density compared to wildtype. The single-channel conductance and open probability of the mutant channel was identical to wildtype. However, protein kinase C (PKC) activation abolished the open probability of the wildtype channel, whereas the mutant channel was unaffected. Since changes in PKC activity occur during thyrotoxicosis, weakness may result in the presence of the T354M hypomorphic mutation.

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

Last Updated: Nov 24, 2024