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
| Variant | Gene/Transcript ID | Annotation | Variant ID | SIFT prediction | ||
|---|---|---|---|---|---|---|
| gDNA | cDNA | Protein | ||||
| 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) |