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Table 1 Rare protein-changing private variants in Leonberger dogs

From: Genomic diversity and population structure of the Leonberger dog breed

Gene OMIM/ OMIA number Variant designationa Alternative allele frequency
Genomic position Coding DNA change Protein change
ATXN7 607640 chr20:27,234,549 c.2285 T > C p.Val762Ala 0.1154
CEP55 610000 chr28:7,777,489 c.1334A > C p.Tyr446Ser 0.0256
CNTF 118945 chr18:37,758,771 c.401_402insA p.Asn137fs 0.0128
ELOVL4 605512 chr12:40,850,011 c.424_433delGGAGCACAGC p.Gly142fs 0.0128
FDX1L 614585 chr20:50,798,661 c.124_125insGGCCGCCATCACCACGGCGGTGAGCACCGCCGCCAGCAGCACCAGCCCGTCAGCGTTGAGCCG p.Thr41_Ala42insGlyProProSerProArgArgTer 0.0128
GJA9b 611923/2119–9615 chr15:3,863,519 c.1108_1109delGA p.Glu370fs 0.0513
MCM3AP 603294 chr31:39,553,337 c.1785_1793delCTCTGAAGG p.Ser596_Gly598del 0.0128
NAPEPLDc 612334/1788–9615 chr18:16,987,520 c.559G > C p.Ala187Pro 0.1154
PLEKHG5 611101 chr5:60,325,903 c.1585C > T p.Gln529* 0.0128
SPTBN4 606214/2232–9823 chr1:113,215,064 c.1247_1248insGGTAGCCCATGCGGT p.Ala416_Ala417insValAlaHisAlaVal 0.0128
SYNE1 608441 chr1:42,549,994 c.17359C > T p.Arg5788Trp 0.0256
  1. aAdditional details including the protein prediction effects are described in Additional file 10 Table S6. All positions refer to the CanFam3.1 reference sequence assembly
  2. bPreviously described polyneuropathy-associated variant [5]
  3. cPreviously described leukoencephalomyelopathy-associated variant [6]
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