The c.121A>T mutation is located in exon 1 and creates a premature stop codon at amino acid 41. This stop codon is predicted to result in nonsense-mediated messenger RNA (mRNA) decay (NMD) and the loss of the homeobox functional domain.
Families 1 and 2
Variant, NKX6-2: c.121A>T; p.Lys41∗ (NM_177400.2), results in stop codon at amino acid 41 resulting in mRNA decay which causes the loss of the functional homeobox.
The c.121A>T mutation is located in exon 1 and creates a premature stop codon at amino acid 41. This stop codon is predicted to result in nonsense-mediated messenger RNA (mRNA) decay (NMD) and the loss of the homeobox functional domain.
Families 1 and 2
Variant, NKX6-2: c.121A>T; p.Lys41∗ (NM_177400.2), results in stop codon at amino acid 41 resulting in mRNA decay which causes the loss of the functional homeobox.