Editing Missense mutation (section)

=== Rett Syndrome ===
Missense mutations in the MeCP2 protein can cause [[Rett syndrome]], otherwise known as the RTT phenotype.<ref name="Brown_2016">{{cite journal |vauthors=Brown K, Selfridge J, Lagger S, Connelly J, De Sousa D, Kerr A, Webb S, Guy J, Merusi C, Koerner MV, Bird A |date=February 2016 |title=The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome |journal=Human Molecular Genetics |volume=25 |issue=3 |pages=558–570 |doi=10.1093/hmg/ddv496 |pmc=4731022 |pmid=26647311}}</ref> This phenotype primarily effects females, as males do not live with this mutation past infancy.<ref name="Brown_2016" /> T158M, R306C and R133C are the most common missense mutations causing RTT.<ref name="Brown_2016" />  T158M is a mutation of an [[adenine]] being substituted for a [[guanine]] causing the [[threonine]] at amino acid position 158 being substituted with a [[methionine]].<ref>{{cite book |title=Comprehensive Guide to Autism |vauthors=Zhou Z, Goffin D |date=2014 |publisher=Springer New York |isbn=978-1-4614-4787-0 |veditors=Patel VB, Preedy VR, Martin CR |place=New York, NY |pages=2723–2739 |language=en |chapter=Modeling Rett Syndrome with MeCP2 T158A Knockin Mice |doi=10.1007/978-1-4614-4788-7_181 |access-date=2025-02-07 |chapter-url=https://link.springer.com/10.1007/978-1-4614-4788-7_181}}</ref> R133C is a mutation of a [[cytosine]] at base position 417 in the gene encoding the [[MECP2|MeCP2]] protein being substituted for a [[thymine]], causing an amino acid substitution at position 133 in the protein of [[arginine]] with [[cysteine]].<ref name=":8">{{cite journal |vauthors=Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY |date=October 1999 |title=Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 |journal=Nature Genetics |volume=23 |issue=2 |pages=185–188 |doi=10.1038/13810 |pmid=10508514}}</ref>