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. 2017 Dec 6;15:213. doi: 10.1186/s12916-017-0977-3

Table 2.

List of missense (and in-frame indels) mutations detected in the GCK gene. All mutations (except p.A11T) were observed in a single individual in our dataset

DNA change AA change Poly-Phen2a SIFTb MutationTasterc CADDd Age at diagnosis, years Previously observed in MODY ExAC AFe dbSNP144 ACMG classf
c.484G > A p.G162S Pr.D tol del 26.5 13 1 family ─ ─ 3
c.952G > A p.G318R Pos.D del del 27.2 14 4 families ─ ─ 4
c.617C > T p.T206M Pr.D del del 33 19 13 families ─ ─ 4
c.238G > A p.G80S Pr.D del del 32 24 2 families ─ rs193922317 4
c.1349C > T p.A450V Pr.D del del 29.7 27 ─ ─ 3
c.911T > C p.L304P Pr.D tol del 24.6 28 3 families ─ ─ 4
c.559G > T p.D187Y Pr.D del del 33 28 3 families ─ ─ 4
c.214G > A p.G72R Pr.D del del 34 29 18 families ─ rs193922289 5
c.118G > A p.E40K Pr.D del del 33 30 5 families ─ ─ 4
c.562G > A p.A188T Pr.D del del 35 30 22 families 0.0001 rs751279776 4
c.640T > G p.Y214D Pr.D del del 27.2 33 ─ ─ 3
c.131G > A p.G44D Pr.D del del 29 34 4 families ─ rs193922279 4
c.572G > A p.R191Q Pr.D del del 35 37 9 families ─ ─ 4
c.787_801del p.263_267del ─ ─ ─ ─ 39 ─ ─ 4
c.544G > A p.V182M Pr.D del del 34 41 12 families ─ rs587780345 5
c.706G > A p.E236K Pos.D del del 33 42 2 families ─ rs587780347 4
c.394G > A p.D132N benign tol del 23 56 1 family 0.000015 ─ 3
c.757G > A p.V253I benign tol del 18.4 61 0.00006 rs748964205 3
c.31G > A p.A11T benign tol poly 12.8 32, 45 0.024 rs116093166 2
c.35A > G p.K12R benign tol poly 16.8 NA 0.000015 rs777958777 3

Reference sequence for GCK: NM_000162

aPolyPhen2 predictions are probably damaging (Pr.D), possibly damaging (Pos.D) and benign

bSIFT predictions are deleterious (del) and tolerated (tol)

cMutationTaster predictions are disease causing (del) and polymorphism (poly)

dCADD scaled C-scores range from 0 to 30. Higher CADD scores correspond to more deleterious variants; a CADD score of 20 (30) corresponds to the top 1% (0.1%) of deleterious substitutions in the human genome

eExAC allele frequency is the maximum allele frequency of the variant allele among the different populations

fACMG classification: 5 = pathogenic, 4 = likely pathogenic and 3 = uncertain significance (see Methods)

AA amino acid, ACMG American College of Medical Genetics, AF allele frequency, dbSNP Single Nucleotide Polymorphism Database, ExAC Exome Aggregation Consortium, NA not available