Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34180 | 102763;102764;102765 | chr2:178534077;178534076;178534075 | chr2:179398804;179398803;179398802 |
| N2AB | 32539 | 97840;97841;97842 | chr2:178534077;178534076;178534075 | chr2:179398804;179398803;179398802 |
| N2A | 31612 | 95059;95060;95061 | chr2:178534077;178534076;178534075 | chr2:179398804;179398803;179398802 |
| N2B | 25115 | 75568;75569;75570 | chr2:178534077;178534076;178534075 | chr2:179398804;179398803;179398802 |
| Novex-1 | 25240 | 75943;75944;75945 | chr2:178534077;178534076;178534075 | chr2:179398804;179398803;179398802 |
| Novex-2 | 25307 | 76144;76145;76146 | chr2:178534077;178534076;178534075 | chr2:179398804;179398803;179398802 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.001 | N | 0.211 | 0.1 | 0.0884992946249 | gnomAD-4.0.0 | 3.18201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.76478E-05 | 0 | 0 | 0 | 0 |
| S/I | None | None | 0.667 | N | 0.478 | 0.216 | 0.482792760554 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85773E-06 | 0 | 0 |
| S/N | rs1254821683  |
-0.037 | 0.001 | N | 0.203 | 0.11 | 0.0806252709748 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs1254821683 |
-0.037 | 0.001 | N | 0.203 | 0.11 | 0.0806252709748 | gnomAD-4.0.0 | 6.36402E-06 | None | None | None | None | N | None | 0 | 9.14578E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | None | None | 0.497 | N | 0.371 | 0.233 | 0.284150004643 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85771E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2561 | likely_benign | 0.2709 | benign | -0.461 | Destabilizing | 0.072 | N | 0.503 | neutral | None | None | None | None | N |
| S/C | 0.2622 | likely_benign | 0.3073 | benign | -0.338 | Destabilizing | 0.958 | D | 0.432 | neutral | N | 0.481766222 | None | None | N |
| S/D | 0.5703 | likely_pathogenic | 0.5936 | pathogenic | 0.37 | Stabilizing | 0.157 | N | 0.409 | neutral | None | None | None | None | N |
| S/E | 0.8373 | likely_pathogenic | 0.8469 | pathogenic | 0.309 | Stabilizing | 0.157 | N | 0.413 | neutral | None | None | None | None | N |
| S/F | 0.7877 | likely_pathogenic | 0.8146 | pathogenic | -0.938 | Destabilizing | 0.89 | D | 0.485 | neutral | None | None | None | None | N |
| S/G | 0.1545 | likely_benign | 0.1549 | benign | -0.617 | Destabilizing | 0.001 | N | 0.211 | neutral | N | 0.485819305 | None | None | N |
| S/H | 0.5939 | likely_pathogenic | 0.6017 | pathogenic | -1.042 | Destabilizing | 0.567 | D | 0.385 | neutral | None | None | None | None | N |
| S/I | 0.6558 | likely_pathogenic | 0.7079 | pathogenic | -0.177 | Destabilizing | 0.667 | D | 0.478 | neutral | N | 0.474764783 | None | None | N |
| S/K | 0.8974 | likely_pathogenic | 0.9071 | pathogenic | -0.462 | Destabilizing | 0.157 | N | 0.411 | neutral | None | None | None | None | N |
| S/L | 0.4097 | ambiguous | 0.4623 | ambiguous | -0.177 | Destabilizing | 0.567 | D | 0.452 | neutral | None | None | None | None | N |
| S/M | 0.5715 | likely_pathogenic | 0.6043 | pathogenic | -0.074 | Destabilizing | 0.968 | D | 0.393 | neutral | None | None | None | None | N |
| S/N | 0.211 | likely_benign | 0.233 | benign | -0.265 | Destabilizing | 0.001 | N | 0.203 | neutral | N | 0.489707759 | None | None | N |
| S/P | 0.9441 | likely_pathogenic | 0.944 | pathogenic | -0.24 | Destabilizing | 0.726 | D | 0.356 | neutral | None | None | None | None | N |
| S/Q | 0.8117 | likely_pathogenic | 0.8191 | pathogenic | -0.42 | Destabilizing | 0.567 | D | 0.385 | neutral | None | None | None | None | N |
| S/R | 0.8504 | likely_pathogenic | 0.8627 | pathogenic | -0.314 | Destabilizing | 0.497 | N | 0.371 | neutral | N | 0.480498774 | None | None | N |
| S/T | 0.143 | likely_benign | 0.1539 | benign | -0.357 | Destabilizing | 0.124 | N | 0.473 | neutral | N | 0.456354132 | None | None | N |
| S/V | 0.6354 | likely_pathogenic | 0.6845 | pathogenic | -0.24 | Destabilizing | 0.726 | D | 0.453 | neutral | None | None | None | None | N |
| S/W | 0.8129 | likely_pathogenic | 0.8251 | pathogenic | -0.953 | Destabilizing | 0.968 | D | 0.632 | neutral | None | None | None | None | N |
| S/Y | 0.6204 | likely_pathogenic | 0.6533 | pathogenic | -0.668 | Destabilizing | 0.89 | D | 0.479 | neutral | None | None | None | None | N |
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.