NM_024110.4(CARD14):c.424G>A (p.Glu142Lys) AND Psoriasis susceptibility 2

Clinical significance:Pathogenic (Last evaluated: May 4, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000024314.4

Allele description [Variation Report for NM_024110.4(CARD14):c.424G>A (p.Glu142Lys)]

NM_024110.4(CARD14):c.424G>A (p.Glu142Lys)

Gene:
CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_024110.4(CARD14):c.424G>A (p.Glu142Lys)
HGVS:
  • NC_000017.11:g.80183987G>A
  • NG_032778.1:g.18996G>A
  • NM_024110.4:c.424G>A
  • NP_077015.2:p.Glu142Lys
  • NC_000017.10:g.78157786G>A
  • NR_047566.1:n.657G>A
  • Q9BXL6:p.Glu142Lys
  • p.(Glu142Lys)
Protein change:
E142K; GLU142LYS
Links:
UniProtKB: Q9BXL6#VAR_068227; UniProtKB/Swiss-Prot: VAR_068227; OMIM: 607211.0004; dbSNP: 281875212
NCBI 1000 Genomes Browser:
rs281875212
Molecular consequence:
  • NM_024110.4:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047566.1:n.657G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Psoriasis susceptibility 2 (PSORS2)
Synonyms:
PSORIASIS 2
Identifiers:
MedGen: C1864497; OMIM: 602723

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000045605OMIMno assertion criteria providedPathogenic
(May 4, 2012)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, et al.

Am J Hum Genet. 2012 May 4;90(5):796-808. doi: 10.1016/j.ajhg.2012.03.013. Epub 2012 Apr 19.

PubMed [citation]
PMID:
22521419
PMCID:
PMC3376540

Details of each submission

From OMIM, SCV000045605.2

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

Description

In a Caucasian man diagnosed at age 42 years with psoriasis (PSORS2; 602723), Jordan et al. (2012) identified heterozygosity for a 424G-A transition in the CARD14 gene, resulting in a glu142-to-lys (E142K) substitution in the coiled-coil domain. The mutation was not found in 1,874 controls. Transfection studies in the keratinocyte cell line HEK001 revealed that the E142K mutant increased NFKB (164011) activation 4-fold more than did wildtype. The patient's disease responded well to UV light and a topical mixture of corticosteroid and a vitamin D analog.

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

Last Updated: May 8, 2017