Table 1. Analysis of S1 candidate genes within BAC RPCI-23–22M9.

Gene symbol	Function	Human homolog	Mutation		Coordinates*	RT-PCR
RPCI-23-22M9			DNA	Protein	3110767–3368420
Synj2	Phosphoinositide 5-phosphatase	SYNJ2	A562→G	N94D	3216322–3318403	Y
			C1436→T	S385F
			A1603→G	NC
			C3884→T	NC
			A3905→C	Q1208P
			A4016→G	3′ UTR
Serac1	Unknown	SERAC1	C74→A, C98→A	5′ UTR	3180874–3216545	Y
			T112→C	V4A
			T118→A, T119→C	F6Y
			T121→G	F7C
			T141→C	NC
			C185→G	T25M
			A301→C, C302→A	T64Q
			T1215→C	NC
			A1574→G	N488S
			T1866→C	NC
			T1976→G	NC
			G1994→A	3′ UTR
D17Wsul55e	Unknown	BC060317			3175122–3180761	Y
Fibrillarin	Pseudogene				3138435–3139391	N
Ftl2	Pseudogene				3127986–3128906	N

Mutations are numbered according to the following: Serac1, NM_177311 (DNA) and NP_796285 (protein); Synj2, NM_011523 (DNA) and NP_035653 (protein). NC, no change. Mutations in bold are correlated (see text).

^*Coordinates are derived from Build 30 (Ensembl)