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Table 1 Proposed causative variants in cattle

From: Evidence for and localization of proposed causative variants in cattle and pig genomes

Gene (variants)

Trait (species)

Variant type

Variant codes

Effect of alleles

Position (ARS-UCD1.2)

Variant Acc

OMIA Acc

Original citation

ABCG2 (p.Tyr581Ser)

Milk yield and composition

Missense SNV

NC_037333.1:g.36599640A > C

ENSBTAP00000051068:p.Tyr581Ser

A has higher milk yield and lower fat and protein concentration

6:36,599,640

  

[24]

DGAT1 (p.Ala323Lys)

Milk yield and composition

Non-synonymous multinucleotide variant

NC_037341.1:g.611019_611020delinsAA

ENSBTAP00000037256:p.Ala323Lys

AA has higher milk yield and lower fat and protein concentration

14:611,019–611,020

  

[37]

GHR (p.Phe279Tyr)

Milk yield and composition

Missense SNV

NC_037347.1:g.31870098 T > A

ENSBTAP00000001758:p.Phe279Tyr

T has higher milk yield and lower fat and protein concentration

20:31,870,098

rs385640152

 

[45]

MSTN (p.Asp273fs)

Muscle growth (cattle)

Frameshift deletion

NC_037329.1:g.6283674_6283684del

ENSBTAP00000015674:p.Asp273fs

Deletion has more muscle

2:6,283,674–6,283,684

rs382669990

OMIA 000,683–9913

[48,49,50]

(p.Gln204*)

 

Stop gain SNV

NC_037329.1:g.6281434C > T

ENSBTAP00000015674:p.Gln204*

T has more muscle

2:6,281,434

rs110344317

  

(p.Glu226*)

 

Stop gain SNV

NC_037329.1:g.6281500G > T

ENSBTAP00000015674:p.Glu226*

T has more muscle

2:6,281,500

   

(p.Cys313Tyr)

 

Missense SNV

NC_037329.1:g.6283794G > A

ENSBTAP00000015674:p.Cys313Tyr

A has more muscle

2:6,283,794

   

(p.Phe140*)

 

Stop gain indel

NC_037329.1:g.6281243_6281249delinsAAGCATACAA

ENSBTAP00000015674:p.Phe140*

The long allele has more muscle

2:6,281,243–6,281,249

   

PRLR (p.Ala461fs)

Slick coat type

Frameshift deletion

NC_037347.1:g.39099214_delC

ENSBTAP00000069979:p.Ala461fs

Deletion has slick coat

20:39,099,214

rs517047387

OMIA 001,372–9913

[64, 65]

(p.Ser465*)

 

Stop gain SNV

NC_037347.1:g.39099226C > A

ENSBTAP00000069979:p.Ser465*

A has slick coat

20:39,099,226

   

(p.Arg497*)

 

Stop gain SNV

NC_037347.1:g.39099321C > T

ENSBTAP00000069979:p.Arg497*

T has slick coat

20:39,099,321

   
  1. When there are multiple transcripts associated with a nonsynonymous variant that all give rise to the same coding consequences, we give a variant code only relative to one of them. When the gene is not available in the Ensembl gene annotation, we use NCBI annotation instead. We give variant accessions (Acc) (from dbSNP, now available in Ensembl Variation and EVA), and Online Mendelian Inheritance in Animals (OMIA) accessions (Acc) where available