GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) AND Epidermolysis bullosa simplex, Koebner type

Significance: Pathogenic
ClinVar: RCV000015745

Variant: NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)

Type: Variant
Allele: NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) 29678
Gene:
Type: single nucleotide variant
Location: Chr12: 52516688 - assembly GRCh38
Chr12: 52910472 - assembly GRCh37
References: dbSNP: 57599352
OMIM: 148040.0002
UniProtKB: P13647#VAR_003876

Condition

Disease: Epidermolysis bullosa simplex, Koebner type

Citation

    In the large Finnish family with the generalized (Koebner) type of EBS (131900) in which Ryynanen et al. (1991) found linkage to the type II keratin cluster on 12q, Dong et al. (1993) found a heterozygous mutation in KRT5. The disorder was associated with a T-to-C transition (CTG to CCG) within exon 7, resulting in substitution of leucine by proline at codon 462 (L462P). The substituted leucine is one that is invariant among 8 different human keratins in a highly conserved segment at the carboxy-terminal region of the keratin 5 polypeptide.
PMID:1718160, PMID:7686424