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NM_005557.4(KRT16):c.371T>G (p.Leu124Arg) AND Pachyonychia congenita 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 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:
RCV000015710.27

Allele description [Variation Report for NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)]

NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)

Gene:
KRT16:keratin 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)
HGVS:
  • NC_000017.11:g.41612318A>C
  • NG_008301.1:g.5510T>G
  • NM_005557.4:c.371T>GMANE SELECT
  • NP_005548.2:p.Leu124Arg
  • NC_000017.10:g.39768570A>C
  • NM_005557.3:c.371T>G
  • P08779:p.Leu124Arg
Protein change:
L124R; LEU124ARG
Links:
UniProtKB: P08779#VAR_013837; OMIM: 148067.0007; dbSNP: rs58293603
NCBI 1000 Genomes Browser:
rs58293603
Molecular consequence:
  • NM_005557.4:c.371T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pachyonychia congenita 1 (PC1)
Synonyms:
Pachyonychia congenita Jadassohn Lewandowsky type; Jadassohn Lewandowsky syndrome; PACHYONYCHIA CONGENITA, LATE ONSET
Identifiers:
MONDO: MONDO:0008173; MedGen: C1706595; Orphanet: 2309; OMIM: 167200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035975OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2000) 		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

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.

Smith FJ, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein EH Jr, Tan EM, Uitto J, McLean WH.

Exp Dermatol. 2000 Jun;9(3):170-7.

PubMed [citation]
PMID:
10839714

Details of each submission

From OMIM, SCV000035975.4

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

Description

In a father and son with pachyonychia congenita-1 (PC1; 167200), Smith et al. (2000) identified heterozygosity for a c.371T-G transversion in the KRT16 gene, resulting in a leu124-to-arg (L124R) substitution in the 1A domain of the K16 polypeptide. The mutation was not found in 50 unrelated controls. Expression of mutant K16 in the PtK2 epithelial cell line produced complete collapse of the endogenous keratin cytoskeleton into dense aggregates.

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

Last Updated: Apr 23, 2022