Table 7 Novel deleterious mutations specific to SAMP8/TaSlc
Location | Gene symbol | Gene name | Nucleotide change (cDNA) | Amino acid change | SIFT score | Polyphen-2 score |
|---|---|---|---|---|---|---|
Chr2:60190230 | Ly75 | lymphocyte antigen 75 | c.1657G>A | p.R553W | 0.02 | 0.997 |
Chr5:75023400 | Lnx1 | ligand of numb-protein X 1 | c.685T>A | p.N154Y | 0 | 0.318 |
Chr15:34358663 | Matn2 | matrilin 2 | c.2668C>T | p.A806V | 0.01 | 0.717 |
Chr16:14195230 | Myh11 | myosin, heavy polypeptide 11, smooth muscle | c.5938C>T | p.R1945H | 0.17 | 0.99 |
Chr16:17506416 | Aifm3 | apoptosis-inducing factor, mitochondrion-associated 3 | c.1966G>T | p.K582N | 0.01 | 0.879 |