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Table 1 Detected non-synonymous and frameshift variants in the protein coding regions of LEP, MC4R, MRAP2 and BDNF in 185 index patients with short normal stature

From: Relevance of polymorphisms in MC4R and BDNF in short normal stature

Gene rs-number aa-exchange variant carrier (%)/MAF (%) SNS MAF (%) EVS MAF (%) ExAC Alla/Europeanb Conservation
LEP None None
MC4R None p.Met215Ile 1 (0.54%) /0.27 None 0.0008/0.0014 98.2%
rs13447329 p.Thr112Met 2 (1.08%) /0.54 0.07 0.12/0.20 70.9%
rs52820871 p.Ile251Leu 4 (2.16%) /1.08 1.16 0.68/1.00 78.2%
rs2229616 p.Val103Ile 12 (6.49%) /3.24 1.85 1.74/1.95 94.5%
BDNF rs8192466 p.Thr2Ile 1 (0.54%) /0.27 0.40 0.11/0.25 93.4%
rs6265 p.Val66Met 79 (42.70%) /23.51 19.07 19.37/19.29 93.4%
rs539177035 p.Cys34PhefsTer12 1 (0.54%) /0.27 None 0.0054/0.0050 n.a.
rs551669106 p.Val56Ala 1 (0.54%) /0.27 None 0.01/0.14 8.2%
MRAP2 None None
  1. aa amino acid, MAF minor allele frequency, SNS short normal stature, EVS Exome variant server based on the Exome Sequencing project NHCBI (http://evs.gs.washington.edu/EVS/) for approximatly 4300 European Americans; ExAC (http://exac.broadinstitute.org/about) comprising a60,706 unrelated individuals from different ethnic background; of these approximatly b34,000 are of European (without Finland) descent; conservation analysis was performed by aligning sequences of 55 (MC4R) and 61 (BDNF) species in total using orthologous data from the database Ensembl (http://www.ensembl.org/index.html; September 23th 2016)