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Table 5 Short list of five potential candidate causative variants for the Brown Swiss populationa

From: Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success

Haplotype-region information Gene OMIM/OMIA Associated disorder/gene function Variant designationb
Name Approach Genomic position Transcript Coding DNA change Protein change
BH2 Trio TUBD1c 607344/001939-9913 Juvenile mortality chr19:10833921 NM_001075470.2 c.629A>G p.His210Arg
BH6 Trio and pgp MARS2 609728 Spastic ataxia 3 (lethal) chr2:86191230 NM_001098971.1 c.1553G>A p.Arg518Gln
BH14 Trio and pgp MRPL55 611859 Early pregnancy loss chr7:2996436 NM_001303490.1 c.169C>T p.Arg57*
BH24 Trio CPT1C 608846 Spastic paraplegia (lethal) chr18:56098048 XM_002695120.5 c.158G>A p.Gly53Asp
BH34 Trio ACSL5 605677/002226-9615 Lipid malabsorption chr26:32940521 NM_001075650.1 c.528C>G p.Asn176Lys
  1. Chr chromosome, BH BS haplotype
  2. aComprehensive list available in Table S5 (see Additional file 6: Table S5)
  3. bAccording to the reference sequence ARS-UCD1.2 [36] and NCBI Annotation Release 106 [54]
  4. cPreviously described variant [11]