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. 2020 May 3;245(11):956–963. doi: 10.1177/1535370220919056

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.