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NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) AND Epidermolytic palmoplantar keratoderma, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2003
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:
RCV004562189.1

Allele description [Variation Report for NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)]

NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)

Gene:
KRT9:keratin 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)
HGVS:
  • NC_000017.11:g.41571510A>T
  • NG_008300.2:g.5549T>A
  • NM_000226.4:c.483T>AMANE SELECT
  • NP_000217.2:p.Asn161Lys
  • NC_000017.10:g.39727762A>T
  • NG_008300.1:g.5549T>A
  • NM_000226.3:c.483T>A
  • P35527:p.Asn161Lys
Protein change:
N161K; ASN161LYS
Links:
UniProtKB: P35527#VAR_003822; OMIM: 607606.0004; dbSNP: rs57536312
NCBI 1000 Genomes Browser:
rs57536312
Molecular consequence:
  • NM_000226.4:c.483T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolytic palmoplantar keratoderma, 1
Synonyms:
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
Identifiers:
MONDO: MONDO:0007758; MedGen: CN377798; OMIM: 144200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023294OMIM
no assertion criteria provided
Pathogenic
(Jul 30, 2003) 		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

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

Lu Y, Guo C, Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y, Gong Y.

Am J Med Genet A. 2003 Jul 30;120A(3):345-9.

PubMed [citation]
PMID:
12838553

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K, et al.

Nat Genet. 1994 Feb;6(2):174-9.

PubMed [citation]
PMID:
7512862

Details of each submission

From OMIM, SCV000023294.2

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

Description

The numbering of this KRT9 mutation (N161K) is based on the numbering system used by Lu et al. (2003). Early reports designated this mutation ASN160LYS.

In a family with epidermolytic palmoplantar keratoderma (EPPK1; 144200), Reis et al. (1994) identified a T-A transversion in exon 1 of the KRT9 gene, resulting in an asn160-to-lys (N160K) substitution at a highly conserved residue in coil 1A of KRT9. The mutation was not found in 64 unrelated controls.

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

Last Updated: May 16, 2025