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Table 1 Overview of Mutations reported in LEP gene

From: The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan

Name of mutation Nature of change Amino acid change Ethnicity Consanguinity No of subjects References
g. 13374delG Frameshift Gly-Val Pakistani Yes 2 Montague et al. [16]
g13289C>T Missense Arg-Trp Turkish Yes 3 Strobel et al. [15]
g. 13398C>G Missense Ser-Cys Turkmenian Unknown Unknown Chekhranova et al. [24]
g. 13285C>A Missense Asn-Lys Egyptian Yes 2 Mazen et al. [23]
g. 13191T>C Missense Leu-Ser Austrian Unknown 1 Funcke et al. [25]
g. 10839_10841delTCA Codon deletion del Isoleu Pakistani Yes 1 Saeed et al. [26]
Fatima et al. [27]
g. 13457_13458delCT Codon deletion Leu-Gly Pakistani Yes 1 Fatima et al. [27]
g. 13139C>T Nonsense Gln-STOP Indian Yes 1 Thakur et al. [28]
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