Skip to main content

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

From: Variant discovery in the sheep milk transcriptome using RNA sequencing

Variant a Gene Allele Freq Effect AA
Assaf Churra
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
  1. a For described variants rs identifier is indicated and novel variants are described with the unique ID “INSDC Genome accession:CHROM:POS:REF:ALT”.