Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2524 | 7795;7796;7797 | chr2:178773486;178773485;178773484 | chr2:179638213;179638212;179638211 |
| N2AB | 2524 | 7795;7796;7797 | chr2:178773486;178773485;178773484 | chr2:179638213;179638212;179638211 |
| N2A | 2524 | 7795;7796;7797 | chr2:178773486;178773485;178773484 | chr2:179638213;179638212;179638211 |
| N2B | 2478 | 7657;7658;7659 | chr2:178773486;178773485;178773484 | chr2:179638213;179638212;179638211 |
| Novex-1 | 2478 | 7657;7658;7659 | chr2:178773486;178773485;178773484 | chr2:179638213;179638212;179638211 |
| Novex-2 | 2478 | 7657;7658;7659 | chr2:178773486;178773485;178773484 | chr2:179638213;179638212;179638211 |
| Novex-3 | 2524 | 7795;7796;7797 | chr2:178773486;178773485;178773484 | chr2:179638213;179638212;179638211 |
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/S | rs797046067  |
-1.61 | 0.996 | N | 0.569 | 0.376 | 0.126345400529 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs797046067 |
-1.61 | 0.996 | N | 0.569 | 0.376 | 0.126345400529 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs797046067 |
-1.61 | 0.996 | N | 0.569 | 0.376 | 0.126345400529 | gnomAD-4.0.0 | 2.56143E-06 | None | None | None | None | N | None | 3.38158E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2164 | likely_benign | 0.2017 | benign | -0.934 | Destabilizing | 0.998 | D | 0.565 | neutral | N | 0.434326236 | None | None | N |
| T/C | 0.7197 | likely_pathogenic | 0.7012 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/D | 0.8772 | likely_pathogenic | 0.8509 | pathogenic | -1.12 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/E | 0.851 | likely_pathogenic | 0.8113 | pathogenic | -0.997 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/F | 0.8657 | likely_pathogenic | 0.8355 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| T/G | 0.4915 | ambiguous | 0.4857 | ambiguous | -1.323 | Destabilizing | 0.997 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/H | 0.8124 | likely_pathogenic | 0.7743 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| T/I | 0.7937 | likely_pathogenic | 0.7475 | pathogenic | 0.06 | Stabilizing | 1.0 | D | 0.787 | deleterious | D | 0.543744259 | None | None | N |
| T/K | 0.8386 | likely_pathogenic | 0.8015 | pathogenic | -0.994 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/L | 0.5356 | ambiguous | 0.5009 | ambiguous | 0.06 | Stabilizing | 0.998 | D | 0.661 | neutral | None | None | None | None | N |
| T/M | 0.2695 | likely_benign | 0.2474 | benign | 0.194 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| T/N | 0.4186 | ambiguous | 0.4015 | ambiguous | -1.337 | Destabilizing | 0.884 | D | 0.359 | neutral | N | 0.514186498 | None | None | N |
| T/P | 0.9499 | likely_pathogenic | 0.949 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.608766977 | None | None | N |
| T/Q | 0.7358 | likely_pathogenic | 0.6882 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| T/R | 0.8101 | likely_pathogenic | 0.7682 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/S | 0.1802 | likely_benign | 0.1738 | benign | -1.528 | Destabilizing | 0.996 | D | 0.569 | neutral | N | 0.431157888 | None | None | N |
| T/V | 0.5843 | likely_pathogenic | 0.5271 | ambiguous | -0.238 | Destabilizing | 1.0 | D | 0.576 | neutral | None | None | None | None | N |
| T/W | 0.9596 | likely_pathogenic | 0.9461 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| T/Y | 0.8371 | likely_pathogenic | 0.8041 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.828 | 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.