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. Author manuscript; available in PMC: 2021 Jul 1.
Published in final edited form as: Equine Vet J. 2020 Oct 29;53(4):690–700. doi: 10.1111/evj.13345

TABLE 1.

The gene, Ensembl transcript ID used for annotation, chromosomal location, cDNA sequence variation and amino acid substitution for the P2, P3a, P3b and P4 variants with reference to EquCab3

Annotation
Variant Gene/Transcript ID gDNA cDNA Protein Variant ID SIFT prediction
P2 Myotilin (MYOT) ENSECAT00000022238.3 chr14:g.37818823A>G c.697T>C p.Ser233Pro rs1138656462 0.18 (tolerated)
P3a Filamin C (FLNC) ENSECAT00000076596.1 chr4:g.83837774G>A c.2971G>A p.Glu991Lys rs1139799323 0.06–0.08 (tolerated)
P3b Filamin C (FLNC) ENSECAT00000076596.1 chr4:g.83840299G>A c.4333G>A p.Ala1445Thr rs1142918816 0.04 (deleterious) – 0.07 (tolerated), isoform dependent
P4 Myozenin 3 (MYOZ3) ENSECAT00000015783.3 chr14:g.26710261G>A c.125C>T p.Ser42Leu rs1142544043 0 (deleterious)