Table 4. Additional nonsynonymous mutations in the PRKACA gene found in public databases.

dbSNP	Exon no.	Nucleotide no.	Amino acid	WT/mut nt	WT/mut aa	Functional consequence prediction
rs142045517	2	103	Ala34	G/A	Ala/Thr	Ala34 is Ser in rodent Cα and Thr in human Cβ – likely few functional consequences
rs56029020	3	121	Leu40	T/G	Leu/Val	Leu40 is absolutely conserved in metazoan Cα/Cβ homologs – likely deleterious
rs112360106	3	149	Leu49	T/A	Leu/His	Conserved in metazoan Cα/Cβ homologs – likely deleterious
rs148280386	5	409	Gly136	G/A	Gly/Arg	Conserved in metazoan Cα/Cβ homologs – likely deleterious
rs142007512	6	541	Ile180	A/G	Ile/Val	Highly conserved in vertebrate Cα/Cβ – possibly functional effects
rs11541563	7	560	Gly186	G/T	Gly/Val	Conserved in metazoan Cα/Cβ homologs – likely deleterious
rs34988264	8	673	Leu224	-/G, 1 nt insertion		Frame shift in exon 8 – very likely results in nonfunctional Cα
rs35635531	9	791	Ser263	C/G	Ser/Cys	Highly conserved in metazoan Cα/Cβ homologs – possibly functional effects
rs146946205	9	842	Arg280	G/A	Arg/His	Conserved in metazoan Cα/Cβ homologs – likely deleterious
rs187770246	9	926	Arg308	G/A	Arg/Lys	Conserved as Arg or Lys in metazoa – likely few consequences
rs149832080	10	955	Phe318	T/C	Phe/Leu	Not conserved in vertebrates – likely few consequences
rs141087932	10	1045	Ser348	T/C	Ser/Pro	Not conserved in mammals – likely few consequences

Enumeration is given as in Table 3, and sequence conservation is illustrated in Supplementary Fig. S1. Reference identifiers from dbSNP [36], [49] are included in the left column.