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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/I | 33657 | Ig-159 | 62 | rs769340667 | 0.3497 | 0.163 | 0.999 | N | 0.728 | 0.341 | 0.372087925617 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
N/K | 33657 | Ig-159 | 62 | rs747456613 | 0.3338 | 0.274 | 0.731 | N | 0.233 | 0.14 | 0.134241683229 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
N/K | 33657 | Ig-159 | 62 | rs747456613 | 0.3338 | 0.274 | 0.731 | N | 0.233 | 0.14 | 0.134241683229 | gnomAD-4.0.0 | 6.84218E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99483E-07 | 0 | 0 |
N/S | 33657 | Ig-159 | 62 | rs769340667 | 0.0704 | 0.022 | 0.943 | N | 0.501 | 0.162 | 0.17948927462 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
N/S | 33657 | Ig-159 | 62 | rs769340667 | 0.0704 | 0.022 | 0.943 | N | 0.501 | 0.162 | 0.17948927462 | gnomAD-4.0.0 | 6.15797E-06 | None | None | None | None | N | None | 0 | 6.70811E-05 | None | 0 | 0 | None | 0 | 0 | 5.3969E-06 | 0 | 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.