Plakoblobin
PLAK Locus table - Naxos Disease synopsis
OMIM: 601214
Gene Bank cDNA for Homo Sapiens PLAK: M23410
Nucleotide Change |
Aminoacid Change |
Mutation |
Protein Domain |
Mutation carriers |
Phenotype |
References |
| 2157del2 | stop@-56 (1) | frameshift | C-term | 19 (12 families) (2) | ARVC+WH+PPK(3) | McKoy et al 2000 |
(1) The mutation truncates the 13th armadillo repeat of the protein; (2) The phenotype is inherited as autosomal recesive trait; the 19 carriers are homozyous carriers for the disease allele.
(3)ARVC=Arrhythmogenic Right Ventricular Cardiomiopathy:WH=WollyHair: PPK=palmoplantar keratoderma
Genomic clone for PLAK: AC012192