Missense mutations can render the resulting protein nonfunctional,[2] and such mutations are responsible for human diseases such as Epidermolysis bullosa, sickle-cell disease, SOD1 mediated ALS, and a substantial number of cancers.
[3][4] In the most common variant of sickle-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin is altered from the codon GAG to GTG.
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.
At phenotype level this manifests with overlapping mandibuloacral dysplasia and progeria syndrome.
[7] A method to screen for such changes was proposed in 2012, namely fast parallel proteolysis (FASTpp).