rs13447331
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
|
|
|
rs13447331
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Two different previously described heterozygous loss of function MC4R variants (i.e. p.Ser19Alafs*34, p.Ser127Leu) were identified in two obese probands, and one obese (p.Ser19Alafs*34), and one lean (p.Ser127Leu) adult family relatives.
|
26047380 |
2015 |
rs187152753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
|
|
|
rs187152753
|
|
|
0.810 |
GeneticVariation |
BEFREE |
(1) A novel MC4R non-synonymous mutation (S136F) was detected in a 2.3 year old girl with extreme obesity (BMI 33.2 kg/m(2), >99th centile); (2) a previously described non-synonymous mutation (V253I) was identified in an obese mother (BMI 28.1 kg/m(2)) who did not transmit this mutation to her extremely obese son; (3) two known polymorphisms (V103I and I251L) were also identified; and (4) one obese mother was carrier of a silent variation (c.594C>T; I198).
|
17286227 |
2007 |
rs121913562
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs121913563
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs121913564
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs1057517991
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
|
|
|
rs1057517991
|
|
|
0.720 |
GeneticVariation |
BEFREE |
By screening patients with severe early onset obesity for mutations within the melanocortin 4 receptor (MC4R) gene, we have identified a missense mutation (C271R) that occurs homozygous in two siblings with obesity.
|
14504270 |
2003 |
rs1057517991
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We conclude that in our sample, the MC4R (C271R) mutation causing obesity, is in association with ADHD.
|
18777518 |
2008 |
rs121913557
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity.
|
19184404 |
2009 |
rs121913557
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs121913558
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs121913558
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity.
|
19184404 |
2009 |
rs121913559
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We investigated whether MC4R variants identified from obese patients with binge eating disorder (T11A, F51L, T112M, and M200V) and variants identified in nonobese (I102T, F202L, and N240S) or obese (I102S, A154D, and S295P) subjects cause loss-of-function and what are the defects.
|
16030156 |
2005 |
rs121913559
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs121913566
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In transient transfection assays, the N62S mutant receptor showed a responsiveness to alphaMSH that was intermediate between the wild-type receptor and mutant receptors carrying nonsense and missense mutations associated with dominantly inherited obesity.
|
10903343 |
2000 |
rs121913566
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs13447323
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The correlation between the four variants (c.-24G>A, p.Thr101Ile, p.Ala259Asp and p.Ser30Phe) and the obesity phenotype, therefore, allows the conclusion that all of the four mutations cause a monogenic form of obesity.
|
30981838 |
2019 |
rs13447323
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs766665118
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Additionally, we also report a monogenic case of obesity carrying the pathogenic mutation 449C>T (Thr150Ile) in MC4R gene with no apparent alterations in eating behavior scores.
|
26588347 |
2016 |
rs766665118
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Additionally, we also report a monogenic case of obesity carrying the pathogenic mutation 449C>T (Thr150Ile) in MC4R gene with no apparent alterations in eating behavior scores.
|
26588347 |
2016 |
rs79783591
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The MC4R p.Ile269Asn mutation may have emerged as a founder mutation in native Mexicans and is associated with childhood and adult obesity in the modern Mexican population.
|
31841602 |
2020 |
rs121913560
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs121913561
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|