The mutation is a a T to G transition at base pair 59,549,036 (Build 38) on Chromosome 11, or base pair 7,468 in the GenBank genomic region NC_000077. This site corresponds to nucleotide 1,664 in the mRNA sequence NM_145827, within exon 4 of 10 total exons. The mutation results in a phenylalanine (F) to valine (V) substitution at amino acid position 480 (F480V) of the protein. (J:220071)