Table 2. Mutation analysis screening of the MODY genes in Turkish children diagnosed with autoantibody negative type 1 diabetes mellitus.
|
Gene OMIM ID MODY type |
cDNA rs ID Types of mutation |
Protein |
Zygosity |
In silico prediction |
MAF % |
ACMG class |
N |
|
GCK 125851/MODY2 |
c.109C>T rs762263694 missense |
p.(Arg37Trp) |
Hetero |
PbD/Del/DC |
0.00119 |
P |
2 |
|
GCK |
c.679G>A rs148311934 missense |
p.(Val227Met) |
Hetero |
PbD/Del/DC |
0.000796 |
P |
2 |
|
GCK |
c.116A>C rs1064794268 missense |
p.(Gln39Pro) |
Hetero |
PbD/Del/DC |
NA |
LP |
1 |
|
GCK |
c.575G>A rs886042610 missense |
p.(Arg192Gln) |
Hetero |
PbD/Del/DC |
NA |
LP |
1 |
|
GCK |
c.686C>T rs80356655 missense |
p.(Thr229Met ) |
Hetero |
PbD/Del/DC |
0.000399 |
P |
1 |
|
GCK |
c.1181T>C missense |
p.(Met394Thr) |
Hetero |
PD/Del/DC |
NA |
P |
1 |
|
GCK |
c.45+1G>C novel splice site |
p.? |
Hetero |
NA/NA/DC |
NA |
LP |
1 |
|
GCK |
c.1090_1091insGCTGCGACCCTCGACCACCG novel insertion |
p.(Asp364Glyfs Ter46) |
de-novo |
NA/NA/DC |
NA |
LP |
1 |
|
GCK |
c.536G>A rs886039380 missense |
p.(Gly179Glu) |
Hetero |
PbD/Del/DC |
NA |
P |
1 |
|
HNF1B 137920/MODY5 |
c.1024T>C rs1282596664 missense |
p.(Ser342Pro) |
Hetero |
PD/Tol/DC |
0.000402 |
LP |
1 |
|
HNF1B |
c.1045+1G>A novel splice site |
p.? |
Hetero |
NA/NA/DC |
NA |
LP |
1 |
|
ABCC8 |
c.4369G>A rs72559717 missense |
p.(Ala1457Thr) |
Hetero |
PbD/Del/DC |
NA |
LP |
1 |
In silico prediction: PolyPhen-2, SIFT: mutation tester, respectively; Polyphen predictions: B: bening, PD: possibly damaging, PbD: probably damaging, SIFT predictions: Del: deleterious, Tol: tolerated, mutation tester predictions: DC: disease-causing, Poly: polymorphism, NA: not available, ACMG Class, P: pathogenic, LP: likely pathogenic Transcripts: GCK(NM_033507.3), HNF1B(NM_000458.4), ABCC8(NM_000352.6)