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Updated: Jun 27, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[A new mutation c.422C>G (p.S141C) in homo- and heterozygous forms of the human leptin gene]
M K Chekhranova1, S K Karpova, S B Iatsyshina
1Endocrinological Research Center, Rosmedtechnology, Moskvorech'e 1, Moscow, 115478, Russia.
Abstract:
Mutation g.15409C>G, c.422C>G (p.S141C) in homo- and heterozygous forms of the human LEP gene was identified among some patients of the high mountain village of Karaul, Ashkhabad oblast, Turkmenistan, some of which suffer from adiposity. It causes the substitution S120C in the secreted leptin. The mature leptin molecule (146 aa) has only two Cys residues (C96 and C146) forming an S-S bridge, which is important for the hormone function. A third mutation, C120, in the molecule might disturb the correct formation of the S-S bond and could alter the leptin activity.
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