| Gene/Locus: | RET |
|---|---|
| Dna Change: | c.1852T>C |
| Protein Change: | p.Cys618Arg |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon10 |
| Transcript: | NM_020630.4 |
| Gene/Locus: | NOP56 |
|---|---|
| Dna Change: | (GGCCTG)n EXPANSION |
| Protein Change: | |
| Mutation Type: | Sequence repeat |
| Mutation Effect: | |
| Location: | intron 1 |
| Transcript: | NM_006392.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Spain | NA | Galicia (Costa da Morte) | NA | 1275 years ago | García-Murias M et al., 2012García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ, . 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.. Brain. 2012; 135(0):1423-35 |
García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ, 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.Brain. 2012; 135(0):1423-35
Neocleous V, Skordis N, Portides G, Efstathiou E, Costi C, Ioannou N, Pantzaris M, Anastasiadou V, Deltas C, Phylactou LA, RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.J. Endocrinol. Invest.. 2011; 34(10):764-9
Peretz H, Luboshitsky R, Baron E, Biton A, Gershoni R, Usher S, Grynberg E, Yakobson E, Graff E, Lapidot M, Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.Hum. Mutat.. 1997; 10(2):155-9