Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31939 | 96040;96041;96042 | chr2:178544414;178544413;178544412 | chr2:179409141;179409140;179409139 |
| N2AB | 30298 | 91117;91118;91119 | chr2:178544414;178544413;178544412 | chr2:179409141;179409140;179409139 |
| N2A | 29371 | 88336;88337;88338 | chr2:178544414;178544413;178544412 | chr2:179409141;179409140;179409139 |
| N2B | 22874 | 68845;68846;68847 | chr2:178544414;178544413;178544412 | chr2:179409141;179409140;179409139 |
| Novex-1 | 22999 | 69220;69221;69222 | chr2:178544414;178544413;178544412 | chr2:179409141;179409140;179409139 |
| Novex-2 | 23066 | 69421;69422;69423 | chr2:178544414;178544413;178544412 | chr2:179409141;179409140;179409139 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs780048908  |
-0.999 | None | N | 0.253 | 0.189 | 0.0297737177859 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | I | None | 0 | 2.60945E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs780048908 |
-0.999 | None | N | 0.253 | 0.189 | 0.0297737177859 | gnomAD-4.0.0 | 1.43226E-05 | None | None | None | None | I | None | 0 | 2.05799E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | 0.029 | N | 0.584 | 0.102 | 0.1749357433 | gnomAD-4.0.0 | 3.60102E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 1.21507E-04 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0542 | likely_benign | 0.0582 | benign | -0.68 | Destabilizing | None | N | 0.253 | neutral | N | 0.368099205 | None | None | I |
| T/C | 0.2105 | likely_benign | 0.2164 | benign | -0.332 | Destabilizing | 0.356 | N | 0.626 | neutral | None | None | None | None | I |
| T/D | 0.2404 | likely_benign | 0.2204 | benign | -0.418 | Destabilizing | 0.016 | N | 0.564 | neutral | None | None | None | None | I |
| T/E | 0.2253 | likely_benign | 0.2057 | benign | -0.456 | Destabilizing | 0.016 | N | 0.555 | neutral | None | None | None | None | I |
| T/F | 0.2067 | likely_benign | 0.1808 | benign | -0.957 | Destabilizing | 0.214 | N | 0.673 | neutral | None | None | None | None | I |
| T/G | 0.1364 | likely_benign | 0.1427 | benign | -0.891 | Destabilizing | 0.007 | N | 0.558 | neutral | None | None | None | None | I |
| T/H | 0.2522 | likely_benign | 0.2322 | benign | -1.276 | Destabilizing | 0.214 | N | 0.668 | neutral | None | None | None | None | I |
| T/I | 0.1289 | likely_benign | 0.1005 | benign | -0.222 | Destabilizing | 0.029 | N | 0.584 | neutral | N | 0.483155507 | None | None | I |
| T/K | 0.2333 | likely_benign | 0.2063 | benign | -0.691 | Destabilizing | 0.016 | N | 0.557 | neutral | None | None | None | None | I |
| T/L | 0.084 | likely_benign | 0.0755 | benign | -0.222 | Destabilizing | 0.016 | N | 0.533 | neutral | None | None | None | None | I |
| T/M | 0.0696 | likely_benign | 0.0676 | benign | 0.23 | Stabilizing | 0.356 | N | 0.616 | neutral | None | None | None | None | I |
| T/N | 0.0951 | likely_benign | 0.0896 | benign | -0.546 | Destabilizing | None | N | 0.377 | neutral | N | 0.48028856 | None | None | I |
| T/P | 0.4849 | ambiguous | 0.3782 | ambiguous | -0.344 | Destabilizing | 0.055 | N | 0.619 | neutral | N | 0.508187237 | None | None | I |
| T/Q | 0.2281 | likely_benign | 0.2137 | benign | -0.809 | Destabilizing | 0.072 | N | 0.631 | neutral | None | None | None | None | I |
| T/R | 0.1984 | likely_benign | 0.172 | benign | -0.386 | Destabilizing | 0.072 | N | 0.619 | neutral | None | None | None | None | I |
| T/S | 0.0728 | likely_benign | 0.0765 | benign | -0.752 | Destabilizing | None | N | 0.241 | neutral | N | 0.362037237 | None | None | I |
| T/V | 0.0934 | likely_benign | 0.0835 | benign | -0.344 | Destabilizing | None | N | 0.361 | neutral | None | None | None | None | I |
| T/W | 0.561 | ambiguous | 0.481 | ambiguous | -0.903 | Destabilizing | 0.864 | D | 0.665 | neutral | None | None | None | None | I |
| T/Y | 0.2588 | likely_benign | 0.2344 | benign | -0.66 | Destabilizing | 0.356 | N | 0.669 | neutral | None | None | None | None | I |
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.