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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 17312 | Ig-112 | 62 | None | 0.1009 | None | 0.027 | N | 0.259 | 0.134 | 0.263140351381 | gnomAD-4.0.0 | 1.20037E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
E/K | 17312 | Ig-112 | 62 | rs749451611 | 0.101 | 0.746 | None | N | 0.141 | 0.132 | 0.208816687407 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
E/K | 17312 | Ig-112 | 62 | rs749451611 | 0.101 | 0.746 | None | N | 0.141 | 0.132 | 0.208816687407 | gnomAD-4.0.0 | 3.42426E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.64231E-05 | 1.65953E-05 |
E/Q | 17312 | Ig-112 | 62 | rs749451611 | 0.1084 | -0.416 | None | N | 0.168 | 0.049 | 0.239901079897 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
E/Q | 17312 | Ig-112 | 62 | rs749451611 | 0.1084 | -0.416 | None | N | 0.168 | 0.049 | 0.239901079897 | gnomAD-4.0.0 | 1.3697E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00014E-07 | 1.16058E-05 | 0 |
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.