OMIM: 125851Inheritance: Autosomal dominant
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GCK |
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| Dna Change: | c.175C>T |
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| Protein Change: | p.Pro59Ser |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 2 |
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| Transcript: | NM_000162.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | South | 6 patients/32 unrelated patients | NA | Delvecchio M et al., 2013Delvecchio M, Ludovico O, Bellacchio E, Stallone R, Palladino T, Mastroianno S, Zelante L, Sacco M, Trischitta V, Carella M, . MODY type 2 P59S GCK mutant: founder effect in South of Italy.. Clin. Genet.. 2013; 83(1):83-7 |
| Gene/Locus: | GCK |
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| Dna Change: | c.76C>T |
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| Protein Change: | p.Gln26* |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 2 |
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| Transcript: | NM_000162.3 |
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References
Costantini S, Malerba G, Contreas G, Corradi M, Marin Vargas S, Giorgetti A, Maffeis C, Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.Clin. Genet.. 2015; 87(5):440-7
Delvecchio M, Ludovico O, Bellacchio E, Stallone R, Palladino T, Mastroianno S, Zelante L, Sacco M, Trischitta V, Carella M, MODY type 2 P59S GCK mutant: founder effect in South of Italy.Clin. Genet.. 2013; 83(1):83-7