Table 2.
Summary of Variants Identified in the Coding Region of BDNF Gene
| Mutation Protein | cDNA | dbSNP | Type of Mutation | MAF GnomAD (%) | MAF GnomAD (%) | MAF 1000 Genomes (%) | MAF ABraOM (%) | MAF Our Study (%) | Polyphen-2 | SIFT | Mutation Taster | ClinVar | Onset of Obesity | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Exomes | Genomes | |||||||||||||
| p.(Thr2Ile) | c.5C>T | rs8192466 | Missense | 0.00126 | 0.001 | 0.001 | 0.001 | 0.0008 | 0.002 | Tolerated | Probably damaging | Disease causing | Uncertain significance | Childhood |
| p.(Val66Met) | c.196G>A | rs6265 | Missense | 0.1901 | 0.195 | 0.152 | 0.201 | 0.139 | 0.092 | Likely benign | Benign | Polymorphism | Benign | Childhood/adolescence/youth |
| p.Leu107= | c.321C>T | rs148736382 | Synonymous | 0.00002 | 0.0002 | 0.001 | 0.001 | NA | 0.005 | - | - | - | na | Childhood/adolescence/youth |
| p.Thr149= | c.447G>A | rs144235869 | Synonymous | 0.00012 | 0.00012 | 0.00016 | NA | 0.0008 | 0.002 | - | - | - | na | Adolescence/youth |
| p.Ala150= | c.450G>A | rs2353512 | Synonymous | 0.9987 | 0.999 | 0.996 | 0.005 | 0.0008 | 0.012 | - | - | - | na | Childhood/adolescence/youth |
| p.Ser213= | c.639G>A | rs78572035 | Synonymous | 0.0005 | 0.00049 | 0.001 | 0.001 | NA | 0.002 | - | - | - | Benign | Adolescence/youth |
| p.(Arg209Gln) | c.626G>A | rs757598331 | Missense | 0.00002 | 0.00001991 | NA | NA | NA | 0.002 | Deleterious | Probably damaging | Disease causing | na | Childhood |
Abbreviations: MAF, minor allele frequency; NA, not available.