Variant discovery in the sheep milk transcriptome using RNA sequencing

BMC Genomics

Table 3 Functionally relevant variants in genes codifying for major milk proteins

Variant ^a	Gene	Allele Freq		Effect	AA
Variant ^a	Gene	Assaf	Churra	Effect	AA
rs600923112	PAEP	0.25	0.5	Missense-Deleterious	p.Gln167Leu
rs600923112	PAEP	0.375	0	Missense-Deleterious	p.Gln167Arg
rs430610497	PAEP	0.375	0.5	Missense-Tolerated	p.His36Tyr
rs403176291	LALBA	0.125	0.5	Missense-Deleterious	p.Val27Ala
rs420959261	CSN1S1	0.38	0.75	Missense-Tolerated	p.Thr209Ile
rs416941267	CSN2	0.625	0.25	Missense-Tolerated	p.Leu212Ile
rs430298704	CSN2	0	0.125	Missense-Tolerated	p.Met199Val
GCA_000298735.1:6:85186875:G:A	CSN1S2	0.625	0.625	Splice donor
rs430397133	CSN1S2	0	0.125	Missense-Deleterious	p.Asp90Tyr
rs424657035	CSN1S2	0	0.25	Missense-Tolerated	p.Ile120Val
rs399378277	CSN1S2	0.125	0.75	Missense-Tolerated	p.Arg176His

^a For described variants rs identifier is indicated and novel variants are described with the unique ID “INSDC Genome accession:CHROM:POS:REF:ALT”.

ISSN: 1471-2164