Table 1. Rare MRAP2 variants detected in the present study including 1,991 adults with obesity, 2,465 adults with overweight, 2,783 adults with normal weight, 1,137 children/adolescents with obesity, and 1,042 children/adolescents with normal weight.
| Chr | Pos (Hg19) | Mutation* | MAF (‰) | PVS1 | PS1 | PS2 | PS3 | PM1 | PM2 | PM4 | PM5 | PP1 | PP2 | PP3 | Pathogenicity | Number and status of carriers |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 6 | 84765033 | c.-5_5del, p.? | 0.053 | 1 | 0 | NA | NA | 0 | 1 | 1 | 0 | NA | 1 | NA | Pathogenic (LOF) | 1 ob child |
| 6 | 84765035 | c.-3_7del, p.? | 0.053 | 1 | 0 | NA | 1 (LOF) | 0 | 1 | 1 | 0 | NA | 1 | NA | Pathogenic (LOF) | 1 ob adult |
| 6 | 84765044 | c.7G>A, p.A3T | 0.053 | 0 | 0 | NA | 0 | 0 | 0 | 0 | 0 | NA | 1 | 0 | VUS | 1 ovw adult |
| 6 | 84765044 | c.7G>T, p.A3S | 0.16 | 0 | 0 | NA | 0 | 0 | 1 | 0 | 0 | NA | 1 | 0 | VUS | 2 ob children, 1 ob adult |
| 6 | 84765074 | c.37C>G, p.Q13E | 0.053 | 0 | 0 | NA | 0 | 0 | 1 | 0 | 0 | NA | 1 | 0 | VUS | 1 nw child |
| 6 | 84765129 | c.92G>T, p.G31V | 0.053 | 0 | 0 | NA | 1 (LOF) | 0 | 1 | 0 | 0 | NA | 1 | 0 | Lik. pathogenic (LOF) | 1 ob adult |
| 6 | 84765132 | c.95C>T, p.P32L | 0.053 | 0 | 0 | NA | 0 | 0 | 1 | 0 | 0 | NA | 1 | 1 | VUS | 1 nw child |
| 6 | 84772669 | c.185T>G, p.F62C | 0.053 | 0 | 0 | NA | 1 (LOF) | 0 | 1 | 0 | 0 | NA | 1 | 1 | Lik. pathogenic (LOF) | 1 ovw adult |
| 6 | 84798812 | c.230A>G, p.N77S | 0.11 | 0 | 0 | 0 | 1 (LOF) | 0 | 0 | 0 | 0 | 1 | 1 | 0 | Lik. pathogenic (LOF) | 1 ob child, 1 ob adult |
| 6 | 84798854 | c.272T>C, p.V91A | 0.053 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | VUS | 1 nw child |
| 6 | 84798877 | c.295G>C, p.E99Q | 0.053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | VUS | 1 ob adult |
| 6 | 84798886 | c.304A>T, p.K102* | 0.053 | 1 | 0 | NA | 1 (LOF) | 0 | 1 | 1 | 0 | NA | 1 | NA | Pathogenic (LOF) | 1 ovw adult |
| 6 | 84798919 | c.337A>G, p.R113G | 0.11 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 1 | VUS | 1 ob child, 1 ob adult |
| 6 | 84798922 | c.340T>G, p.S114A | 0.053 | 0 | 0 | NA | 0 | 0 | 1 | 0 | 0 | NA | 1 | 1 | VUS | 1 ob child |
| 6 | 84798944 | c.362A>G, p.N121S | 0.053 | 0 | 0 | NA | 0 | 0 | 1 | 0 | 0 | NA | 1 | 0 | VUS | 1 ob adult |
| 6 | 84798955 | c.373C>T, p.R125C | 0.69 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | VUS | 4 ob / 1 nw children, 2 ob / 4 ovw / 2 nw adults |
| 6 | 84798956 | c.374G>A, p.R125H | 1.65 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | VUS | 6 ob / 3 nw children, 9 ob / 10 ovw / 3 nw adults |
| 6 | 84798979 | c.397C>T, p.H133Y | 0.053 | 0 | 0 | NA | 0 | 0 | 0 | 0 | 0 | NA | 1 | 0 | VUS | 1 nw child |
| 6 | 84798991 | c.409G>A, p.A137T | 0.11 | 0 | 0 | NA | 0 | 0 | 0 | 0 | 0 | NA | 1 | 0 | VUS | 1 nw child, 1 nw adult |
| 6 | 84799067 | c.485T>C, p.M162T | 0.11 | 0 | 0 | NA | 0 | 0 | 1 | 0 | 0 | NA | 1 | 0 | VUS | 1 ob / 1 nw adult |
| 6 | 84799159 | c.577A>G, p.T193A | 0.053 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | VUS | 1 ob adult |
| 6 | 84799166 | c.584C>T, p.P195L | 0.16 | 0 | 0 | 0 | 1 (LOF) | 0 | 1 | 0 | 0 | 1 | 1 | 0 | Lik. pathogenic (LOF) | 1 ob child, 1 ob / 1 ovw adult |
| 6 | 84799189 | c.607G>T, p.D203Y | 0.053 | 0 | 0 | NA | 0 | 0 | 0 | 0 | 0 | NA | 1 | 0 | VUS | 1 nw adult |
Chr, chromosome; Lik., likely; LOF, loss-of-function; MAF, minor allele frequency in the present study; NA, not available; nw, normal weight; ob, obese; ovw, overweight; PM1, PM2, PM4 or PM5, ‘moderate’ pathogenicity ACMG criteria; Pos, position (according to the human alignment hg19/GRCh37); PP1, PP2 or PP3, ‘supporting’ pathogenicity ACMG criteria; PS1, PS2 or PS3, ‘strong’ pathogenicity ACMG criteria; PVS1, ‘very strong’ pathogenicity ACMG criterion; VUS, variant of uncertain significance.
*
All these mutations were heterozygous.