Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24356 | 73291;73292;73293 | chr2:178573066;178573065;178573064 | chr2:179437793;179437792;179437791 |
| N2AB | 22715 | 68368;68369;68370 | chr2:178573066;178573065;178573064 | chr2:179437793;179437792;179437791 |
| N2A | 21788 | 65587;65588;65589 | chr2:178573066;178573065;178573064 | chr2:179437793;179437792;179437791 |
| N2B | 15291 | 46096;46097;46098 | chr2:178573066;178573065;178573064 | chr2:179437793;179437792;179437791 |
| Novex-1 | 15416 | 46471;46472;46473 | chr2:178573066;178573065;178573064 | chr2:179437793;179437792;179437791 |
| Novex-2 | 15483 | 46672;46673;46674 | chr2:178573066;178573065;178573064 | chr2:179437793;179437792;179437791 |
| 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 | rs1489472949  |
-0.854 | 0.656 | N | 0.48 | 0.348 | 0.289847578895 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/A | rs1489472949 |
-0.854 | 0.656 | N | 0.48 | 0.348 | 0.289847578895 | gnomAD-4.0.0 | 1.59247E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| T/I | None | None | 0.89 | N | 0.503 | 0.351 | 0.389283895039 | gnomAD-4.0.0 | 1.59248E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 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 | 0.0846 | likely_benign | 0.086 | benign | -0.512 | Destabilizing | 0.656 | D | 0.48 | neutral | N | 0.483222523 | None | None | I |
| T/C | 0.3042 | likely_benign | 0.3092 | benign | -0.266 | Destabilizing | 0.998 | D | 0.574 | neutral | None | None | None | None | I |
| T/D | 0.3774 | ambiguous | 0.4081 | ambiguous | 0.095 | Stabilizing | 0.956 | D | 0.505 | neutral | None | None | None | None | I |
| T/E | 0.2448 | likely_benign | 0.2616 | benign | 0.026 | Stabilizing | 0.754 | D | 0.463 | neutral | None | None | None | None | I |
| T/F | 0.2225 | likely_benign | 0.2294 | benign | -0.894 | Destabilizing | 0.956 | D | 0.657 | neutral | None | None | None | None | I |
| T/G | 0.2336 | likely_benign | 0.2373 | benign | -0.669 | Destabilizing | 0.86 | D | 0.539 | neutral | None | None | None | None | I |
| T/H | 0.2084 | likely_benign | 0.2263 | benign | -0.977 | Destabilizing | 0.994 | D | 0.639 | neutral | None | None | None | None | I |
| T/I | 0.1027 | likely_benign | 0.1112 | benign | -0.21 | Destabilizing | 0.89 | D | 0.503 | neutral | N | 0.46445789 | None | None | I |
| T/K | 0.1228 | likely_benign | 0.1327 | benign | -0.44 | Destabilizing | 0.754 | D | 0.455 | neutral | None | None | None | None | I |
| T/L | 0.0724 | likely_benign | 0.0734 | benign | -0.21 | Destabilizing | 0.019 | N | 0.23 | neutral | None | None | None | None | I |
| T/M | 0.0779 | likely_benign | 0.0793 | benign | 0.095 | Stabilizing | 0.956 | D | 0.575 | neutral | None | None | None | None | I |
| T/N | 0.1201 | likely_benign | 0.1267 | benign | -0.188 | Destabilizing | 0.942 | D | 0.475 | neutral | N | 0.491135789 | None | None | I |
| T/P | 0.3808 | ambiguous | 0.3695 | ambiguous | -0.281 | Destabilizing | 0.97 | D | 0.57 | neutral | D | 0.524497143 | None | None | I |
| T/Q | 0.1678 | likely_benign | 0.1777 | benign | -0.466 | Destabilizing | 0.16 | N | 0.293 | neutral | None | None | None | None | I |
| T/R | 0.1185 | likely_benign | 0.1242 | benign | -0.134 | Destabilizing | 0.043 | N | 0.234 | neutral | None | None | None | None | I |
| T/S | 0.1008 | likely_benign | 0.1061 | benign | -0.446 | Destabilizing | 0.822 | D | 0.465 | neutral | N | 0.484697089 | None | None | I |
| T/V | 0.0995 | likely_benign | 0.1047 | benign | -0.281 | Destabilizing | 0.754 | D | 0.429 | neutral | None | None | None | None | I |
| T/W | 0.513 | ambiguous | 0.5382 | ambiguous | -0.835 | Destabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | I |
| T/Y | 0.269 | likely_benign | 0.2916 | benign | -0.583 | Destabilizing | 0.978 | D | 0.656 | 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.