Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8685 | 26278;26279;26280 | chr2:178715133;178715132;178715131 | chr2:179579860;179579859;179579858 |
| N2AB | 8368 | 25327;25328;25329 | chr2:178715133;178715132;178715131 | chr2:179579860;179579859;179579858 |
| N2A | 7441 | 22546;22547;22548 | chr2:178715133;178715132;178715131 | chr2:179579860;179579859;179579858 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | 0.938 | N | 0.203 | 0.293 | 0.376745185316 | gnomAD-4.0.0 | 6.84234E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
| S/R | rs878932254  |
0.058 | 0.998 | N | 0.332 | 0.488 | 0.469826472337 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| S/R | rs878932254 |
0.058 | 0.998 | N | 0.332 | 0.488 | 0.469826472337 | gnomAD-4.0.0 | 3.42117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49758E-06 | 0 | 0 |
| S/T | None | None | 0.491 | D | 0.192 | 0.179 | 0.311387274539 | gnomAD-4.0.0 | 1.59143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85881E-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 | 0.1152 | likely_benign | 0.1058 | benign | -0.122 | Destabilizing | 0.011 | N | 0.081 | neutral | None | None | None | None | N |
| S/C | 0.2582 | likely_benign | 0.2399 | benign | -0.369 | Destabilizing | 0.999 | D | 0.347 | neutral | D | 0.536543417 | None | None | N |
| S/D | 0.6899 | likely_pathogenic | 0.6797 | pathogenic | 0.349 | Stabilizing | 0.076 | N | 0.089 | neutral | None | None | None | None | N |
| S/E | 0.7795 | likely_pathogenic | 0.767 | pathogenic | 0.25 | Stabilizing | 0.172 | N | 0.086 | neutral | None | None | None | None | N |
| S/F | 0.3934 | ambiguous | 0.351 | ambiguous | -0.84 | Destabilizing | 1.0 | D | 0.367 | neutral | None | None | None | None | N |
| S/G | 0.1224 | likely_benign | 0.1164 | benign | -0.182 | Destabilizing | 0.938 | D | 0.203 | neutral | N | 0.492737583 | None | None | N |
| S/H | 0.6068 | likely_pathogenic | 0.5775 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.33 | neutral | None | None | None | None | N |
| S/I | 0.2916 | likely_benign | 0.2776 | benign | -0.1 | Destabilizing | 0.998 | D | 0.357 | neutral | N | 0.499992512 | None | None | N |
| S/K | 0.8943 | likely_pathogenic | 0.8832 | pathogenic | -0.279 | Destabilizing | 0.99 | D | 0.168 | neutral | None | None | None | None | N |
| S/L | 0.1496 | likely_benign | 0.133 | benign | -0.1 | Destabilizing | 0.99 | D | 0.306 | neutral | None | None | None | None | N |
| S/M | 0.2981 | likely_benign | 0.2775 | benign | -0.14 | Destabilizing | 1.0 | D | 0.329 | neutral | None | None | None | None | N |
| S/N | 0.211 | likely_benign | 0.2057 | benign | -0.099 | Destabilizing | 0.7 | D | 0.191 | neutral | N | 0.510742832 | None | None | N |
| S/P | 0.1785 | likely_benign | 0.1549 | benign | -0.082 | Destabilizing | 0.994 | D | 0.333 | neutral | None | None | None | None | N |
| S/Q | 0.7379 | likely_pathogenic | 0.7158 | pathogenic | -0.277 | Destabilizing | 0.99 | D | 0.247 | neutral | None | None | None | None | N |
| S/R | 0.8608 | likely_pathogenic | 0.8471 | pathogenic | -0.116 | Destabilizing | 0.998 | D | 0.332 | neutral | N | 0.500953563 | None | None | N |
| S/T | 0.1207 | likely_benign | 0.1161 | benign | -0.202 | Destabilizing | 0.491 | N | 0.192 | neutral | D | 0.531675464 | None | None | N |
| S/V | 0.3122 | likely_benign | 0.2886 | benign | -0.082 | Destabilizing | 0.974 | D | 0.329 | neutral | None | None | None | None | N |
| S/W | 0.4897 | ambiguous | 0.462 | ambiguous | -0.929 | Destabilizing | 1.0 | D | 0.481 | neutral | None | None | None | None | N |
| S/Y | 0.3233 | likely_benign | 0.2996 | benign | -0.596 | Destabilizing | 1.0 | D | 0.367 | 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.