| Phenotype: | Galactokinase deficiency with cataracts |
|---|---|
| Dna Change: | c.82C>A |
| Protein Change: | p.Pro28Thr |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 1 |
| Transcript: | NM_000154.1 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Bosnia-Herzegovina | NA | NA | 19 patients/13 families | NA | Hennermann JB et al., 2011Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Mönch E, Klein J, . Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.. J. Inherit. Metab. Dis.. 2011; 34(2):399-407 |
| Spain | Gypsy | NA | carrier rate of 1.9% | 750 years | Hunter M et al., 2002Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV, . The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.. Pediatr. Res.. 2002; 51(5):602-6 |
Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Mönch E, Klein J, Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.J. Inherit. Metab. Dis.. 2011; 34(2):399-407
Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV, The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.Pediatr. Res.. 2002; 51(5):602-6