NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys) AND Recessive dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: May 1, 1993)

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:
RCV000018969.27

Allele description [Variation Report for NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys)]

NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys)
HGVS:
  • NC_000003.12:g.48566281A>T
  • NG_007065.1:g.33972T>A
  • NM_000094.3:c.8393T>A
  • NP_000085.1:p.Met2798Lys
  • LRG_286t1:c.8393T>A
  • LRG_286:g.33972T>A
  • LRG_286p1:p.Met2798Lys
  • NC_000003.11:g.48603714A>T
  • Q02388:p.Met2798Lys
Protein change:
M2798K; MET2798LYS
Links:
UniProtKB: Q02388#VAR_001837; OMIM: 120120.0001; dbSNP: rs121912828
NCBI 1000 Genomes Browser:
rs121912828
Molecular consequence:
  • NM_000094.3:c.8393T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Recessive dystrophic epidermolysis bullosa (RDEB)
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039256OMIMno assertion criteria providedPathogenic
(May 1, 1993)
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

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.

Christiano AM, Greenspan DS, Hoffman GG, Zhang X, Tamai Y, Lin AN, Dietz HC, Hovnanian A, Uitto J.

Nat Genet. 1993 May;4(1):62-6.

PubMed [citation]
PMID:
8513326

Details of each submission

From OMIM, SCV000039256.1

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

Description

In an African American family in which 4 individuals related as first cousins once removed had autosomal recessive epidermolysis bullosa dystrophica (226600), Christiano et al. (1993) used single-strand conformation polymorphism (SSCP) electrophoresis and sequencing to demonstrate a T-to-A transversion in the COL7A1 gene, resulting in a met2798-to-lys (M2798K) substitution. The mutation was homozygous in 2 affected sibs, while their unaffected mother and half brother were heterozygous. The mutation resided in a highly conserved region of the C terminus of type VII collagen and was not found in 194 alleles from unrelated, unaffected African American individuals when screened with a restriction analysis based on a new restriction site for the endonuclease EarI created by the mutation.

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

Last Updated: Oct 7, 2021

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