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Last update

21/6/2017

Gene: glucokinase (hexokinase 4); GCK

Gene Symbol: GCK
OMIM: 138079
Chromosome location: 7p13

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Maturity-onset diabetes of the young, type 2; MODY2 || c.175C>T

Phenotype:	Maturity-onset diabetes of the young, type 2; MODY2
Dna Change:	c.175C>T
Protein Change:	p.Pro59Ser
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000162.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Maturity-onset diabetes of the young, type 2; MODY2 || c.76C>T

Phenotype:	Maturity-onset diabetes of the young, type 2; MODY2
Dna Change:	c.76C>T
Protein Change:	p.Gln26*
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000162.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	7 patients/7 unrelated families	NA	Costantini S et al., 2015Costantini 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

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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: glucokinase (hexokinase 4); GCK

References