Table 1.
MC4R mutations identified in this study.
Site | Region | Amino acid change | Frequency |
---|---|---|---|
NC_000018.10:g.60371817G>A | Coding; TM | T187M | 1/27 |
NC_000018.10:g.60371854C>T | Coding; TM | V166I | 1/27 |
NC_000018.10:g.60372043C>T | Coding; TM | V103I | 1/27 |
NC_000018.10:g.60372565G>A | 5'-UTR | None | 4/27 |
TM: transmembrane region; T: threonine; M: methionine; V: valine; I: isoleucine; UTR: untranslated region.