SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/E | 18018 | Ig-114 | 51 | rs2054476187 | 0.1424 | None | 0.117 | N | 0.421 | 0.242 | 0.269111216191 | gnomAD-4.0.0 | 1.27475E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22692E-04 | None | 0 | 0 | 0 | 0 | 0 |
K/M | 18018 | Ig-114 | 51 | rs368425364 | 0.2102 | 0.319 | 0.484 | N | 0.524 | 0.192 | None | gnomAD-2.1.1 | 8.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.19971E-04 | 1.49576E-04 | 2.81928E-04 |
K/M | 18018 | Ig-114 | 51 | rs368425364 | 0.2102 | 0.319 | 0.484 | N | 0.524 | 0.192 | None | gnomAD-3.1.2 | 7.9E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 1.47184E-04 | 0 | 0 |
K/M | 18018 | Ig-114 | 51 | rs368425364 | 0.2102 | 0.319 | 0.484 | N | 0.524 | 0.192 | None | gnomAD-4.0.0 | 8.92918E-05 | None | None | None | None | N | None | 1.33643E-05 | 0 | None | 0 | 0 | None | 1.40616E-04 | 0 | 1.06849E-04 | 0 | 1.28189E-04 |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.