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

Table 5 Short list of five potential candidate causative variants for the Brown Swiss population^a

Haplotype-region information		Gene	OMIM/OMIA	Associated disorder/gene function	Variant designation^b
Name	Approach	Gene	OMIM/OMIA	Associated disorder/gene function	Genomic position	Transcript	Coding DNA change	Protein change
BH2	Trio	TUBD1^c	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

Chr chromosome, BH BS haplotype
^aComprehensive list available in Table S5 (see Additional file 6: Table S5)
^bAccording to the reference sequence ARS-UCD1.2 [36] and NCBI Annotation Release 106 [54]
^cPreviously described variant [11]

ISSN: 1297-9686