Table 2.
In-silico analyses for detected MC3R variants.
| SNP-IDa | AA exchangeb | Con_perc (%)c | Nuc_del (i/3)d | AA_del (j/2)e | P_stab (k/2)f |
|---|---|---|---|---|---|
| rs3827103 | p.Val44Ile | 100 | 1/3 | 0/2 | dec (2/2)i |
| rs143321797 | p.Phe45Ser | 100 | 3/3 | 2/2 | dec (2/2) |
| rs145062060 | p.Leu58 = | 100 | 1/3 | NAh | |
| rs749736842 | p.Leu58 = | 76.92 | 1/3 | NA | |
| rs148382606 | p.Tyr143 = | 84.62 | 2/3 | NA | |
| rs41274722 | p.Ile189 = | 30.77 | 2/3 | NA | |
| Novelg | p.Ala214Val | 100 | 3/3 | 2/2 | inc (2/2)j |
| rs767076441 | p.Val218Ile | 88.46 | 0/3 | 0/2 | dec (2/2) |
| in rs61735259 | p.Arg220Ser | 100 | 3/3 | 2/2 | dec (2/2) |
| rs757322252 | p.Ile298Ser | 100 | 3/3 | 2/2 | dec (2/2) |
| rs121913556 | 3/3 | ||||
aSNP-ID: the dbSNP ID of detected variants.
bAA exchange: AA alteration of detected variants.
cCon_perc (%): the percentile of conserved positions in the analyzed 26 species.
dNuc_del (i/3): the altered nucleotide was predicted as deleteriousness in i of three in-silico tools.
eAA_del (j/2): the alternative AA was evaluated as pathogenic in j of two tests.
fP_stab (k/2): the protein stability changing in k of 2 predictors.
gNovel: the novel variant that has not been identified in the previous studies.
hNA: not available data.
idec (2/2): protein stability decreased in both estimated software.
jinc (2/2): protein stability increases in both software.