Editing Missense mutation (section)

=== LMNA ===
[[File:LMNA_protein_(1IFR)_mutation_R527L_PMID_22549407.png|thumb|375px|upright=1.3|Wild type (left) and mutated (right) form of lamin A (pdb id: 1IFR). Normally, Arginine 527 (blue) forms [[Salt bridge (protein)|salt bridge]] with glutamate 537 (magenta), but R527L substitution results in breaking this interaction (leucine has a nonpolar tail and therefore cannot form a static salt bridge).]]
     DNA: 5' - AAC AGC CTG <span style="background-color:#ccf">CGT</span> ACG GCT CTC - 3'
          3' - TTG TCG GAC <span style="background-color:#ccf">GCA</span> TGC CGA GAG - 5'
    mRNA: 5' - AAC AGC CUG CGU ACG GCU CUC - 3'
 Protein:      [[Asparagine|Asn]] [[Serine|Ser]] [[Leucine|Leu]] [[Arginine|Arg]] [[Threonine|Thr]] [[Alanine|Ala]] [[Leucine|Leu]]

[[LMNA]] missense mutation (c.1580G>T) introduced at LMNA gene – position 1580 (nt) in the DNA sequence (CGT) causing the [[guanine]] to be replaced with the [[thymine]], yielding CTT in the DNA sequence. This results at the protein level in the replacement of the [[arginine]] by the [[leucine]] at the position 527.<ref>{{cite journal |vauthors=Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M |date=November 2012 |title=A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome |journal=European Journal of Human Genetics |volume=20 |issue=11 |pages=1134–1140 |doi=10.1038/ejhg.2012.77 |pmc=3476705 |pmid=22549407}}</ref> This leads to destruction of [[Salt bridge (protein)|salt bridge]] and structure destabilization. At [[phenotype]] level this manifests with overlapping [[mandibuloacral dysplasia]] and [[progeria syndrome]].

The resulting transcript and protein product is:

     DNA: 5' - AAC AGC CTG <span style="background-color:#ccf">CTT</span> ACG GCT CTC - 3'
          3' - TTG TCG GAC <span style="background-color:#ccf">GAA</span> TGC CGA GAG - 5'
    mRNA: 5' - AAC AGC CUG CUU ACG GCU CUC - 3'
 Protein:      [[Asparagine|Asn]] [[Serine|Ser]] [[Leucine|Leu]] [[Leucine|Leu]] [[Threonine|Thr]] [[Alanine|Ala]] [[Leucine|Leu]]