Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5175 | 15748;15749;15750 | chr2:178733866;178733865;178733864 | chr2:179598593;179598592;179598591 |
| N2AB | 4858 | 14797;14798;14799 | chr2:178733866;178733865;178733864 | chr2:179598593;179598592;179598591 |
| N2A | 3931 | 12016;12017;12018 | chr2:178733866;178733865;178733864 | chr2:179598593;179598592;179598591 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs903635675  |
0.066 | 0.201 | N | 0.49 | 0.303 | 0.425499470309 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.4E-05 | None | 0 | 0 | 0 |
| D/A | rs903635675 |
0.066 | 0.201 | N | 0.49 | 0.303 | 0.425499470309 | gnomAD-4.0.0 | 3.2444E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.91426E-05 | 0 |
| D/E | None | None | 0.001 | N | 0.183 | 0.042 | 0.177238962908 | gnomAD-4.0.0 | 1.62141E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.92639E-06 | 0 | 0 |
| D/G | rs903635675 |
None | 0.334 | N | 0.535 | 0.364 | 0.260249123532 | gnomAD-4.0.0 | 1.6222E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.07939E-05 |
| D/H | rs2080971523 |
None | 0.931 | N | 0.592 | 0.366 | 0.37568098594 | gnomAD-4.0.0 | 1.37983E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81265E-06 | 0 | 0 |
| D/N | None | None | 0.334 | N | 0.514 | 0.249 | 0.27132560031 | gnomAD-4.0.0 | 6.89914E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17528E-05 | 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 | 0.1157 | likely_benign | 0.1581 | benign | -0.173 | Destabilizing | 0.201 | N | 0.49 | neutral | N | 0.495149577 | None | None | I |
| D/C | 0.5261 | ambiguous | 0.6846 | pathogenic | 0.022 | Stabilizing | 0.982 | D | 0.665 | neutral | None | None | None | None | I |
| D/E | 0.086 | likely_benign | 0.1132 | benign | -0.225 | Destabilizing | 0.001 | N | 0.183 | neutral | N | 0.387113951 | None | None | I |
| D/F | 0.5297 | ambiguous | 0.6801 | pathogenic | -0.059 | Destabilizing | 0.935 | D | 0.66 | neutral | None | None | None | None | I |
| D/G | 0.1136 | likely_benign | 0.1449 | benign | -0.389 | Destabilizing | 0.334 | N | 0.535 | neutral | N | 0.477026478 | None | None | I |
| D/H | 0.2243 | likely_benign | 0.3028 | benign | 0.022 | Stabilizing | 0.931 | D | 0.592 | neutral | N | 0.508587702 | None | None | I |
| D/I | 0.284 | likely_benign | 0.4058 | ambiguous | 0.351 | Stabilizing | 0.826 | D | 0.671 | neutral | None | None | None | None | I |
| D/K | 0.2271 | likely_benign | 0.317 | benign | 0.276 | Stabilizing | 0.25 | N | 0.499 | neutral | None | None | None | None | I |
| D/L | 0.3046 | likely_benign | 0.4215 | ambiguous | 0.351 | Stabilizing | 0.7 | D | 0.659 | neutral | None | None | None | None | I |
| D/M | 0.4695 | ambiguous | 0.6175 | pathogenic | 0.425 | Stabilizing | 0.982 | D | 0.639 | neutral | None | None | None | None | I |
| D/N | 0.0912 | likely_benign | 0.1127 | benign | -0.001 | Destabilizing | 0.334 | N | 0.514 | neutral | N | 0.493856131 | None | None | I |
| D/P | 0.4669 | ambiguous | 0.6059 | pathogenic | 0.2 | Stabilizing | 0.826 | D | 0.6 | neutral | None | None | None | None | I |
| D/Q | 0.2042 | likely_benign | 0.2886 | benign | 0.052 | Stabilizing | 0.539 | D | 0.497 | neutral | None | None | None | None | I |
| D/R | 0.2656 | likely_benign | 0.3535 | ambiguous | 0.438 | Stabilizing | 0.539 | D | 0.631 | neutral | None | None | None | None | I |
| D/S | 0.0936 | likely_benign | 0.1156 | benign | -0.131 | Destabilizing | 0.25 | N | 0.451 | neutral | None | None | None | None | I |
| D/T | 0.1568 | likely_benign | 0.2187 | benign | 0.038 | Stabilizing | 0.7 | D | 0.539 | neutral | None | None | None | None | I |
| D/V | 0.1701 | likely_benign | 0.2338 | benign | 0.2 | Stabilizing | 0.638 | D | 0.649 | neutral | N | 0.486906618 | None | None | I |
| D/W | 0.8134 | likely_pathogenic | 0.8905 | pathogenic | 0.06 | Stabilizing | 0.982 | D | 0.649 | neutral | None | None | None | None | I |
| D/Y | 0.2319 | likely_benign | 0.3061 | benign | 0.174 | Stabilizing | 0.916 | D | 0.661 | neutral | N | 0.507186099 | None | None | I |
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.