Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 149 | 670;671;672 | chr2:178800533;178800532;178800531 | chr2:179665260;179665259;179665258 |
| N2AB | 149 | 670;671;672 | chr2:178800533;178800532;178800531 | chr2:179665260;179665259;179665258 |
| N2A | 149 | 670;671;672 | chr2:178800533;178800532;178800531 | chr2:179665260;179665259;179665258 |
| N2B | 149 | 670;671;672 | chr2:178800533;178800532;178800531 | chr2:179665260;179665259;179665258 |
| Novex-1 | 149 | 670;671;672 | chr2:178800533;178800532;178800531 | chr2:179665260;179665259;179665258 |
| Novex-2 | 149 | 670;671;672 | chr2:178800533;178800532;178800531 | chr2:179665260;179665259;179665258 |
| Novex-3 | 149 | 670;671;672 | chr2:178800533;178800532;178800531 | chr2:179665260;179665259;179665258 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1465558432  |
-0.606 | 0.999 | N | 0.655 | 0.356 | 0.289098819767 | gnomAD-2.1.1 | 1.19E-05 | None | None | None | -1.562(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.64E-05 | 0 |
| D/N | rs1465558432 |
-0.606 | 0.999 | N | 0.655 | 0.356 | 0.289098819767 | gnomAD-4.0.0 | 5.47248E-06 | None | None | None | -1.562(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19436E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8145 | likely_pathogenic | 0.812 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.506132095 | None | -0.404(TCAP) | N |
| D/C | 0.9915 | likely_pathogenic | 0.9895 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | -0.532(TCAP) | N |
| D/E | 0.7757 | likely_pathogenic | 0.7831 | pathogenic | -0.3 | Destabilizing | 0.99 | D | 0.417 | neutral | N | 0.494389913 | None | -0.434(TCAP) | N |
| D/F | 0.9727 | likely_pathogenic | 0.9717 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -0.858(TCAP) | N |
| D/G | 0.807 | likely_pathogenic | 0.8126 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.499314787 | None | -0.537(TCAP) | N |
| D/H | 0.8908 | likely_pathogenic | 0.8886 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.397041181 | None | 0.509(TCAP) | N |
| D/I | 0.9681 | likely_pathogenic | 0.9613 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | -0.037(TCAP) | N |
| D/K | 0.9561 | likely_pathogenic | 0.9567 | pathogenic | 0.074 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | -0.094(TCAP) | N |
| D/L | 0.9326 | likely_pathogenic | 0.9275 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | -0.037(TCAP) | N |
| D/M | 0.9906 | likely_pathogenic | 0.9896 | pathogenic | 0.31 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | 0.974(TCAP) | N |
| D/N | 0.5779 | likely_pathogenic | 0.5757 | pathogenic | -0.433 | Destabilizing | 0.999 | D | 0.655 | neutral | N | 0.450808628 | None | -1.562(TCAP) | N |
| D/P | 0.9648 | likely_pathogenic | 0.9671 | pathogenic | -0.123 | Destabilizing | 0.996 | D | 0.781 | deleterious | None | None | None | -0.151(TCAP) | N |
| D/Q | 0.9152 | likely_pathogenic | 0.9201 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | -1.074(TCAP) | N |
| D/R | 0.9253 | likely_pathogenic | 0.9291 | pathogenic | 0.31 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | 0.043(TCAP) | N |
| D/S | 0.6883 | likely_pathogenic | 0.6915 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | -1.401(TCAP) | N |
| D/T | 0.9124 | likely_pathogenic | 0.9126 | pathogenic | -0.347 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | -1.267(TCAP) | N |
| D/V | 0.9125 | likely_pathogenic | 0.9033 | pathogenic | -0.123 | Destabilizing | 0.999 | D | 0.785 | deleterious | N | 0.512684565 | None | -0.151(TCAP) | N |
| D/W | 0.9934 | likely_pathogenic | 0.9938 | pathogenic | 0.072 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | -1.173(TCAP) | N |
| D/Y | 0.8098 | likely_pathogenic | 0.8083 | pathogenic | 0.07 | Stabilizing | 1.0 | D | 0.783 | deleterious | N | 0.499154019 | None | -0.872(TCAP) | 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.