Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2989 | 9190;9191;9192 | chr2:178768871;178768870;178768869 | chr2:179633598;179633597;179633596 |
| N2AB | 2989 | 9190;9191;9192 | chr2:178768871;178768870;178768869 | chr2:179633598;179633597;179633596 |
| N2A | 2989 | 9190;9191;9192 | chr2:178768871;178768870;178768869 | chr2:179633598;179633597;179633596 |
| N2B | 2943 | 9052;9053;9054 | chr2:178768871;178768870;178768869 | chr2:179633598;179633597;179633596 |
| Novex-1 | 2943 | 9052;9053;9054 | chr2:178768871;178768870;178768869 | chr2:179633598;179633597;179633596 |
| Novex-2 | 2943 | 9052;9053;9054 | chr2:178768871;178768870;178768869 | chr2:179633598;179633597;179633596 |
| Novex-3 | 2989 | 9190;9191;9192 | chr2:178768871;178768870;178768869 | chr2:179633598;179633597;179633596 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1383280638  |
-0.703 | 0.999 | D | 0.663 | 0.655 | 0.621448058205 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/A | rs1383280638 |
-0.703 | 0.999 | D | 0.663 | 0.655 | 0.621448058205 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/A | rs1383280638 |
-0.703 | 0.999 | D | 0.663 | 0.655 | 0.621448058205 | gnomAD-4.0.0 | 2.56127E-06 | None | None | None | None | N | None | 0 | 3.38926E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | None | None | 0.999 | N | 0.563 | 0.555 | 0.467501455318 | gnomAD-4.0.0 | 6.84106E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9931E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4765 | ambiguous | 0.5416 | ambiguous | -0.802 | Destabilizing | 0.999 | D | 0.663 | neutral | D | 0.672127983 | None | None | N |
| E/C | 0.9752 | likely_pathogenic | 0.9846 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| E/D | 0.391 | ambiguous | 0.4524 | ambiguous | -0.791 | Destabilizing | 0.999 | D | 0.481 | neutral | D | 0.549725223 | None | None | N |
| E/F | 0.9652 | likely_pathogenic | 0.9773 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/G | 0.6657 | likely_pathogenic | 0.7231 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.56227475 | None | None | N |
| E/H | 0.8455 | likely_pathogenic | 0.9018 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| E/I | 0.79 | likely_pathogenic | 0.8381 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| E/K | 0.5687 | likely_pathogenic | 0.6658 | pathogenic | 0.068 | Stabilizing | 0.999 | D | 0.563 | neutral | N | 0.510076923 | None | None | N |
| E/L | 0.855 | likely_pathogenic | 0.8901 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/M | 0.8124 | likely_pathogenic | 0.8579 | pathogenic | 0.333 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| E/N | 0.659 | likely_pathogenic | 0.7481 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| E/P | 0.9871 | likely_pathogenic | 0.9896 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| E/Q | 0.3727 | ambiguous | 0.4419 | ambiguous | -0.336 | Destabilizing | 1.0 | D | 0.628 | neutral | D | 0.591241371 | None | None | N |
| E/R | 0.765 | likely_pathogenic | 0.8221 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| E/S | 0.5062 | ambiguous | 0.5722 | pathogenic | -0.604 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| E/T | 0.5127 | ambiguous | 0.5902 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| E/V | 0.5744 | likely_pathogenic | 0.6365 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.675572984 | None | None | N |
| E/W | 0.9887 | likely_pathogenic | 0.9936 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/Y | 0.9455 | likely_pathogenic | 0.9662 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.761 | deleterious | 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.