Table 2 ACER3 variants and evaluation of its pathogenicity using online prediction tools
Study | Patient | Variant | Gene/genomic location | Allele frequencies | Effect |
|---|---|---|---|---|---|
Current study | A1 | NM_018367.7:c.53 T>C Leu18Pro | Chr11(GRCh37):g.76572073T>C | gnomAD: NR | FATHMM-MKL: damaging |
1000 Genome: NR | Mutation Taster: disease causing | ||||
ESP: NR | MutPred: pathogenic | ||||
Iranome: NR | SIFT: damaging | ||||
A2 | NM_018367.7:c.292T>C p.Tyr98His | Chr11(GRCh37):g.76687357T>C | gnomAD: NR | FATHMM-MKL: damaging | |
1000 Genome: NR | Mutation Taster: disease causing | ||||
ESP: NR | MutPred: pathogenic | ||||
Iranome: NR | SIFT: damaging | ||||
A3 | NM_018367.7:c.566G>A p.Trp189* | Chr11(GRCh37):g.76726128G>A | gnomAD: NR | FATHMM-MKL: damaging | |
1000 Genome: NR | Mutation Taster: disease causing | ||||
ESP: NR | MutPred: N/A | ||||
SIFT: N/A | |||||
Previous studies | P1 | NM_018367.7:c.98A>G p.Glu33Gly | Chr11(GRCh37):g. 76572118A>G | gnomAD: NR | FATHMM-MKL: damaging |
1000 Genome: NR | Mutation Taster: disease causing | ||||
ESP: NR | MutPred: pathogenic | ||||
Iranome: NR | SIFT: damaging | ||||
P2 | NM_018367.7:c.233G>A p.Trp78* | Chr11(GRCh37):g.76670041G>A | gnomAD: NR | FATHMM-MKL: damaging | |
1000 Genome: NR | Mutation Taster: disease causing | ||||
ESP: NR | MutPred: N/A | ||||
Iranome: NR | SIFT: N/A |