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