NM_001320198.1(KRT86):c.340A>G (p.Asn114Asp) AND Beaded hair

Clinical significance:Pathogenic (Last evaluated: Aug 1, 1999)

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:
RCV000008051.2

Allele description [Variation Report for NM_001320198.1(KRT86):c.340A>G (p.Asn114Asp)]

NM_001320198.1(KRT86):c.340A>G (p.Asn114Asp)

Gene:
KRT86:keratin 86 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001320198.1(KRT86):c.340A>G (p.Asn114Asp)
HGVS:
  • NC_000012.12:g.52302256A>G
  • NG_008086.2:g.32612A>G
  • NM_001320198.1:c.340A>G
  • NP_001307127.1:p.Asn114Asp
  • NC_000012.11:g.52696040A>G
  • NG_008086.1:g.5392A>G
  • O43790:p.Asn114Asp
Protein change:
N114D; ASN114ASP
Links:
UniProtKB: O43790#VAR_018125; OMIM: 601928.0004; dbSNP: 61091894
NCBI 1000 Genomes Browser:
rs61091894
Molecular consequence:
  • NM_001320198.1:c.340A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Beaded hair (MNLIX)
Synonyms:
MONILETHRIX (1 patient); Monilethrix
Identifiers:
MedGen: C0546966; Orphanet: 573; OMIM: 158000
Age of onset:
Infancy

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028256OMIMno assertion criteria providedPathogenic
(Aug 1, 1999)
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

Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J.

J Invest Dermatol. 1999 Aug;113(2):263-6.

PubMed [citation]
PMID:
10469314

Details of each submission

From OMIM, SCV000028256.1

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

Description

Winter et al. (1999) described the first monilethrix (158000)-causing mutation in the HIM of the cortex keratin HB6. The critical asn114-to-asp substitution was found only in affected members of a large Swedish 3-generation kindred. Considering that since childhood, half of the affected individuals suffered from complete baldness and follicular keratosis, the HIM mutation seemed to be associated with a rather severe disease phenotype.

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

Last Updated: Apr 7, 2017