Table 1.
Mutant ID | Mutation type | PSI of mutated exon (heart/skeletal muscle) | Zebrafish protein change# | Orthologous human amino acid position* |
---|---|---|---|---|
n1 | 7bp insertion | 1.000/1.000 | p.E1463fsX3 | 1697 |
n2 | 1bp insertion | 1.000/1.000 | p.A2815GfsX3 | 3048 |
n3 | 2bp deletion | 1.000/1.000 | p.Q7597GfsX8 | 9693 |
c1 | 2bp deletion | 0.996/1.000 | p.E15193GfsX8 | 17996 |
c2 | 4bp deletion | 1.000/0.995 | p.T18311GfsX8 | 21215 |
c3 | 8bp insertion | 1.000/0.996 | p.A29052RfsX8 | 32003 |
#Amino acid numbering is relative to ENSDART00000109099. *Amino acid numbering is relative to TTN meta-transcript.