This mutation has been identified as a T to A transversion that destroys the donor splice site of intron 27 (GTAAG -> GAAAG) (position 92815 in the Genbank genomic region NC_000079 for linear genomic DNA sequence of Lyst). The mutation is predicted to result in skipping of the 27th of the 53 exons of Lyst, which would shift the reading frame after amino acid position 2474, leading to a premature stop codon at amino acid position 2482. (J:133616)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count