G2630207A

W1198term | PI4KIIIalpha-PC; W1218term | PI4KIIIalpha-PD

W1242term

The reported amino acid position for the mutation was based on a predicted protein length of 2178 amino acids. The current Pi4KIIIalpha annotation is shorter by 44 amino acids due to the use of a different splice donor site in the first intron. The mapped amino acid position has been shifted accordingly. G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified). G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified).