A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8

Table 1 Non-synonymous mutations

Position*	Ref	Obs	A	C	G	T	total	used	SNP Type	Gene ID (ENSRNOG)	Name	Description	cDNA	Prot	AA change
63385139	G	AG	339	1	314	0	714	654	het2	00000006674	Fam101b	Protein FAM101B	647	176	P- > L
64469050	C	T	0	0	0	392	393	392	hom	00000012866	Nek8	serine/threonine-protein kinase Nek8	2008	650	R- > C
66106990	T	TA	25	0	0	32	152	57	het1	00000022699	LOC303341	Keratin, type I cytoskeletal 18	464	155	Y- > F
66106991	A	AT	32	0	0	28	155	60	het1	00000022699	LOC303342	Keratin, type I cytoskeletal 19	463	155	Y- > N

List of non-synonymous mutations derived from Nimblegen array target sequencing and bounded by the genes Myo1c and Slc6a4 and using the flanking markers D10Rat161 and D10Rat238 [62685555-67091740].
*Position location in base pairs (bp) was determined using the Rat Genome Browser Gateway using the Baylor 3.4/ build rn4 (http://genome.ucsc.edu/cgi-bin/hgGateway?org=rat). Ref: nucleotide on the ref sequence. Obs: nucleotide recorded from transcripts. A C G T: number of transcripts recorded with a change to the reference. Total: total number of transcripts recorded with a change to the reference. Used: reads that support the change after consideration of read quality. SNP type: defines type of mutation. DNA: position of the base change within the cDNA. prot: position of the amino acid change within the protein. AA change: resultant change of amino acid in the protein. Hom: homozygous. Het: heterozygous.

ISSN: 1471-2164