Table 1. Mechanisms of variants in the... | American Society of Hematology

Table 1.

Mechanisms of variants in the SP to cause FIX deficiency

Variants	Apparent variant effect	Mechanisms to cause FIX deficiency
		Aberrant pre-mRNA splicing	Missense variants
		Aberrant pre-mRNA splicing	RAPP	Disturbing cotranslational translocation of SP	Disturbing cleavage of SP
c.8G>A	Missense p.R3H	No	NA	No	No
c.19A>T	Missense p.I7F	No	NA	No	No
c.50T>A	Missense p.I17N	NA	No	Yes	No
c.53G>T	Missense p.C18F	Partially	NA	No	No
c.59T>C	Missense p.L20S	NA	Yes	Yes	No
c.62G>T	Missense p.G21V	No	NA	No	No
c.68T>C	Missense p.L23P	NA	Yes	Yes	No
c.71T>C	Missense p.L24P	NA	Yes	Yes	No
c.77C>A	Missense p.A26D	Partially	No	Partially	Yes
c.82T>C	Missense p.C28R	Partially	No	Partially	Yes
c.82T>G	Missense p.C28G	Yes	No	No	Yes∗
c.83G>A	Missense p.C28Y	Partially	No	No	Yes
c.84T>G	Missense p.C28W	No	No	No	Yes

Variants	Apparent variant effect	Mechanisms to cause FIX deficiency
		Aberrant pre-mRNA splicing	Missense variants
		Aberrant pre-mRNA splicing	RAPP	Disturbing cotranslational translocation of SP	Disturbing cleavage of SP
c.8G>A	Missense p.R3H	No	NA	No	No
c.19A>T	Missense p.I7F	No	NA	No	No
c.50T>A	Missense p.I17N	NA	No	Yes	No
c.53G>T	Missense p.C18F	Partially	NA	No	No
c.59T>C	Missense p.L20S	NA	Yes	Yes	No
c.62G>T	Missense p.G21V	No	NA	No	No
c.68T>C	Missense p.L23P	NA	Yes	Yes	No
c.71T>C	Missense p.L24P	NA	Yes	Yes	No
c.77C>A	Missense p.A26D	Partially	No	Partially	Yes
c.82T>C	Missense p.C28R	Partially	No	Partially	Yes
c.82T>G	Missense p.C28G	Yes	No	No	Yes∗
c.83G>A	Missense p.C28Y	Partially	No	No	Yes
c.84T>G	Missense p.C28W	No	No	No	Yes

NA, not available.

The aberrant pre-mRNA splicing product disturbs the cleavage of the SP.