| Phenotype: | Charcot-Marie-Tooth disease, type 4C |
|---|---|
| Dna Change: | c.3325C>T |
| Protein Change: | p.Arg1109X |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | exon 14 |
| Transcript: | NM_024577.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Spain | Gypsy | NA | 20 out of 21 chromosomes | 225 years ago | Claramunt R et al., 2007Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C, . The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.. Clin. Genet.. 2007; 71(4):343-9 |
| Spain | Gypsy | NA | 1/26 carrier rate | NA | Gooding R et al., 2005Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L, . A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.. J. Med. Genet.. 2005; 42(12):e69 |
Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C, The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.Clin. Genet.. 2007; 71(4):343-9
Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L, A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.J. Med. Genet.. 2005; 42(12):e69