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Table 5 Functionally relevant variants detected in the milk fat candidate genes considered in this study

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

Varianta

Gene

Allele Freq

Effect

AA

Assaf

Churra

  

GCA_000298735.1:2:87107748:C:A

PLIN2

0.5

0.5

High-Splice donor

 

GCA_000298735.1:3:20585665:C:T

LPIN1

0.125

0

Missense-Deleterious (0)

p.Arg781Trp

GCA_000298735.1:3:92183603:G:T

XDH

0.5

0.5

High-Splice aceptor

 

rs428221119

XDH

0.25

0

Missense-Deleterious (0.02)

p.Leu246Phe

rs429850918

XDH

0.25

0

Missense-Deleterious (0)

p.Arg614Trp

GCA_000298735.1:3:92217135:G:A

XDH

0.5

0.5

High-Splice aceptor

 

GCA_000298735.1:3:92239411: CCGCCCCTCTTCCCGGGCGCCCCCATCTTCTTTTCCA:C

XDH

1

1

Moderate-Inframe deletion

p.Pro1251_Phe1262del

rs604791005

FASN

0

0.125

Missense-deleterious-low_confidence (0.04)

p.Gly2312Ala

GCA_000298735.1:26:13949071:C:T

ACSL1

0.5

0.5

High-Splice donor

 
  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