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Table 1 Non-synonymous mutations

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

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
  1. 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].
  2. *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.