U.S. flag

An official website of the United States government

NM_000165.4(GJA1):c.131C>T (p.Ala44Val) AND Erythrokeratodermia variabilis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2015
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:
RCV000185625.2

Allele description

NM_000165.4(GJA1):c.131C>T (p.Ala44Val)

Gene:
GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_000165.4(GJA1):c.131C>T (p.Ala44Val)
HGVS:
  • NC_000006.12:g.121446978C>T
  • NG_008308.1:g.16380C>T
  • NM_000165.4:c.131C>T
  • NP_000156.1:p.Ala44Val
  • NC_000006.11:g.121768124C>T
Protein change:
A44V; ALA44VAL
Links:
OMIM: 121014.0025; dbSNP: rs794729675
NCBI 1000 Genomes Browser:
rs794729675
Molecular consequence:
  • NM_000165.4:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Erythrokeratodermia variabilis (EKVP)
Synonyms:
ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES; ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS; ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; See all synonyms [MedGen]
Identifiers:
MedGen: C0265961; Orphanet: 317; OMIM: 133200
Age of onset:
Infancy

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000238537OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2015) 		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

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.

Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA.

J Invest Dermatol. 2015 Jun;135(6):1540-1547. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14.

PubMed [citation]
PMID:
25398053
PMCID:
PMC4430428

Details of each submission

From OMIM, SCV000238537.1

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

Description

In a 30-year-old woman with erythrokeratodermia variabilis et progressiva (EKVP; 133200), Boyden et al. (2015) identified heterozygosity for a de novo c.131C-T transition (c.131C-T, NM_000165) in the GJA1 gene, resulting in an ala44-to-val (A44V) substitution at a highly conserved residue at the extracellular boundary of the first transmembrane domain. The mutation was not found in the unaffected parents, in approximately 2,500 control exomes, or in public databases of human genetic variation. Immunostaining of patient and control skin as well as transfected HeLa cells showed that, in contrast to wildtype CX43, the A44V mutant did not localize to the membrane but appeared to be retained in the Golgi apparatus.

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

Last Updated: May 7, 2017