| Phenotype: | Ichthyosis, congenital, autosomal recessive 1 |
|---|---|
| Dna Change: | c.1223_1227delACACA |
| Protein Change: | p.Asp408Valfs*21 |
| Mutation Type: | Deletion |
| Mutation Effect: | Frameshift |
| Location: | exon 8 |
| Transcript: | NM_000359.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Spain | NA | Galicia | 4 families/10 families | 94 generations | Fachal L et al., 2012Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, . Multiple local and recent founder effects of TGM1 in Spanish families.. PLoS ONE. 2012; 7(4):e33580 |
| Phenotype: | Ichthyosis, congenital, autosomal recessive 1 |
|---|---|
| Dna Change: | c.2278C>T |
| Protein Change: | p.Arg760X |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | exon 15 |
| Transcript: | NM_000359.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Spain | NA | Galicia | 7 families/10 families | 96 generations ago | Fachal L et al., 2012Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, . Multiple local and recent founder effects of TGM1 in Spanish families.. PLoS ONE. 2012; 7(4):e33580 |
| Phenotype: | Ichthyosis, congenital, autosomal recessive 1 |
|---|---|
| Dna Change: | c.984+1G>A |
| Protein Change: | |
| Mutation Type: | Substitution |
| Mutation Effect: | |
| Location: | intron 6 |
| Transcript: | NM_000359.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Spain | NA | Galicia | 2 families/10 families | NA | Fachal L et al., 2012Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, . Multiple local and recent founder effects of TGM1 in Spanish families.. PLoS ONE. 2012; 7(4):e33580 |
| Phenotype: | Ichthyosis, congenital, autosomal recessive 1 |
|---|---|
| Dna Change: | c.788G>A |
| Protein Change: | p.Trp263X |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | exon 5 |
| Transcript: | NM_000359.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Tunisia | NA | NA | 2 patients/2 unrelated families | NA | Louhichi N et al., 2013Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F, . Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.. Mol. Biol. Rep.. 2013; 40(3):2527-32 |
Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, Multiple local and recent founder effects of TGM1 in Spanish families.PLoS ONE. 2012; 7(4):e33580
Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F, Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Mol. Biol. Rep.. 2013; 40(3):2527-32