- Desmoplakin -
- ARVD8 and CARVAJAL SYNDROME-

DSP

Gene: ID 1832 ; mRNA: M77830
OMIM: 607450 and 605676; Unigene:Hs.349499 ; Map viewer: 6p24

Nucleotide Change Coding Effect Mutation Type Region Phenotype Reference
423 -1G>A   Splice error N-term ARVC Bauce et al 2005
C897G S299R Missense N-term(1) ARVC Rampazzo et al. 2002
G3764A R1255K Missense Rod domain ARVC Bauce et al 2005
G5324T R1775I Missense Rod domain ARVC Bauce et al 2005
G7402C G2375R(2) Missense C-term DCWHK(3) Alcalai et al 2003

(1) Plakoglobin binding domain;
(2)
Homozygous mutation with autosomal recessive inheritace;
(3)
DCWHK = Dilated Cardiomiopathy (also involving left ventricle) Wooly Hair and Keratoderma


 

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