Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation

Table 1 Missense PRKCSH mutation detected in our family

		278			279			280			281
Species		Asp			Lys			Tyr			Arg
HS	G	A	C	A	A	G	T	A	C	C	G	G
BT	G	A	C	A	A	G	T	A	C	C	G	G
MM	G	A	C	A	A	G	T	A	C	C	G	C
RN	G	A	C	A	A	G	T	A	C	C	G	C
Patients	G	A	C	A	A	G	T	A	C	T	G	G

HS: Homo sapiens; BT: Bos Taurus; MM: Mus musculus, RN: Rattus norvegicus. The C841T PRKCSH mutation detected in this study is indicated in bold, and for comparison the corresponding nucleotides from various species are included. The numbers on top correspond with the codon numbering of hepatocystin, while Asp is aspartic acid; Lys is lysine; Tyr is tyrosine; Arg is arginine. Note that the C at position 841 is highly conserved among the species.