PMID: 28458779

Genetic disorders in beef cattle: a review.

Genes & genomics
A Ciepłoch, K Rutkowska, J Oprządek, E Poławska
2017

16 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-60757188-G-A MRC2 c.2223G>A p.Gln741Gln Synonymous 14/30 -
11-64514760-A-G PYGM c.2248T>C p.Phe750Leu Missense 18/20 -
17-78086405-C-T GAA c.1783C>T p.Pro595Ser Missense 13/20 -
16-1497399-C-G CLCN7 c.2244G>C p.Val748Val Synonymous 23/25 -
2-190922241-C-A MSTN c.871G>T p.Glu291* Nonsense 3/3 -
11-64520595-G-A PYGM c.1468C>T p.Arg490Trp Missense 12/20 -
3-197765476-T-C LMLN c.1906T>C p.Trp636Arg Missense 16/16 -
4-82026998-G-A PRKG2 c.2032C>T p.Arg678* Nonsense 16/19 -
2-190922291-CT-C MSTN c.821delA p.Glu274Glyfs*13 Frameshift 3/3 -
11-46921888-C-T LRP4 c.241G>A p.Gly81Ser Missense 3/38 -
17-78083768-C-T GAA c.1351C>T p.Pro451Ser Missense 9/20 -
11-46897459-C-T LRP4 c.3595G>A p.Gly1199Ser Missense 26/38 -
11-64521136-G-A PYGM c.1258C>T p.Pro420Ser Missense 11/20 -
15-89395265-G-GGCAG ACAN c.2266+1_2266+2insGCAG - SpliceDonorInsertion - 11/15
11-46884156-C-T LRP4 c.5385+1G>A - IntronicSNV - 37/37
2-190922174-C-T MSTN c.938G>A p.Cys313Tyr Missense 3/3 -