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] |