Gene: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase; AGL


Gene Symbol: AGL
OMIM: 610860
Chromosome location: 1p21.2

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

Glycogen storage disease III || c.3216_3217delGA

Phenotype:    Glycogen storage disease III
Dna Change:    c.3216_3217delGA
Protein Change:    p.Glu1072AspfsX36
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 24
Transcript:    NM_000642.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNAregion of Kalaa Kbira situated in the town of Sousse center-east5 patients/5 unrelated familiesNAMili A et al., 2012Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M, . A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.. Clin. Genet.. 2012; 82(6):534-9

Glycogen storage disease III || c.3981G>A (3908G>A)

Phenotype:    Glycogen storage disease III
Dna Change:    c.3981G>A (3908G>A)
Protein Change:    p.Trp1327X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 30
Transcript:    NM_000642.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNACentre (Mahdia)9 patients/26 patientsNACherif W et al., 2012Cherif W, Ben Rhouma F, Messai H, Mili A, Gribaa M, Kefi R, Ayadi A, Boughamoura L, Chemli J, Saad A, Kaabachi N, Sfar MT, Ben Dridi MF, Tebib N, Abdelhak S, . High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.. Ann. Biol. Clin. (Paris). 2012; 70(6):648-50
TurkeyNAEast Black Sea6 patients/ 23 patientsNAAoyama Y et al., 2009Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M, . Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.. J. Hum. Genet.. 2009; 54(11):681-6

Glycogen storage disease III || c.1019delA

Phenotype:    Glycogen storage disease III
Dna Change:    c.1019delA
Protein Change:    p.Glu340Aspfs*9
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 8
Transcript:    NM_000642.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNAMugla and TrabzonNANAOkubo M et al., 2015Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M, . Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.. Clin. Chim. Acta. 2015; 439(0):162-7

Glycogen storage disease III || c.958+1G>A

Phenotype:    Glycogen storage disease III
Dna Change:    c.958+1G>A
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 7
Transcript:    NM_000642.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNABursa and ErzincanNANAOkubo M et al., 2015Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M, . Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.. Clin. Chim. Acta. 2015; 439(0):162-7

References

Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M, Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.J. Hum. Genet.. 2009; 54(11):681-6

Cherif W, Ben Rhouma F, Messai H, Mili A, Gribaa M, Kefi R, Ayadi A, Boughamoura L, Chemli J, Saad A, Kaabachi N, Sfar MT, Ben Dridi MF, Tebib N, Abdelhak S, High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.Ann. Biol. Clin. (Paris). 2012; 70(6):648-50

Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M, A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.Clin. Genet.. 2012; 82(6):534-9

Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M, Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.Clin. Chim. Acta. 2015; 439(0):162-7