Skip to main content

Table 2 Analysis of native and potential alternative splicing elements by HSF

From: Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1

Position

Type

Motif

Value (0–100)

c.914-1 (WT)

Splice acceptor

tctttccaacagGA

92.66

c.914-1 (mutant)

Splice acceptor

tctttccaacaaGA

Site broken

c.914 (potential)

Splice acceptor

ctttccaacaagAG

78.65