Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8123 | 24592;24593;24594 | chr2:178718833;178718832;178718831 | chr2:179583560;179583559;179583558 |
| N2AB | 7806 | 23641;23642;23643 | chr2:178718833;178718832;178718831 | chr2:179583560;179583559;179583558 |
| N2A | 6879 | 20860;20861;20862 | chr2:178718833;178718832;178718831 | chr2:179583560;179583559;179583558 |
| 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/L | rs879096365  |
-0.219 | 0.062 | N | 0.349 | 0.104 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/L | rs879096365 |
-0.219 | 0.062 | N | 0.349 | 0.104 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/L | rs879096365 |
-0.219 | 0.062 | N | 0.349 | 0.104 | None | gnomAD-4.0.0 | 9.2958E-06 | None | None | None | None | N | None | 5.3416E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32398E-06 | 0 | 0 |
| S/P | rs1407865752 |
-0.286 | 0.317 | N | 0.43 | 0.102 | 0.0920862733494 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1407865752 |
-0.286 | 0.317 | N | 0.43 | 0.102 | 0.0920862733494 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77408E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0715 | likely_benign | 0.0692 | benign | -0.515 | Destabilizing | None | N | 0.07 | neutral | N | 0.487742102 | None | None | N |
| S/C | 0.1118 | likely_benign | 0.1199 | benign | -0.29 | Destabilizing | 0.824 | D | 0.36 | neutral | None | None | None | None | N |
| S/D | 0.1503 | likely_benign | 0.1587 | benign | 0.478 | Stabilizing | 0.081 | N | 0.252 | neutral | None | None | None | None | N |
| S/E | 0.2204 | likely_benign | 0.2353 | benign | 0.409 | Stabilizing | 0.149 | N | 0.247 | neutral | None | None | None | None | N |
| S/F | 0.1127 | likely_benign | 0.1148 | benign | -0.986 | Destabilizing | 0.555 | D | 0.424 | neutral | None | None | None | None | N |
| S/G | 0.071 | likely_benign | 0.0698 | benign | -0.664 | Destabilizing | 0.035 | N | 0.253 | neutral | None | None | None | None | N |
| S/H | 0.1385 | likely_benign | 0.144 | benign | -1.089 | Destabilizing | 0.555 | D | 0.367 | neutral | None | None | None | None | N |
| S/I | 0.0941 | likely_benign | 0.1003 | benign | -0.244 | Destabilizing | 0.38 | N | 0.453 | neutral | None | None | None | None | N |
| S/K | 0.1944 | likely_benign | 0.1956 | benign | -0.382 | Destabilizing | 0.149 | N | 0.255 | neutral | None | None | None | None | N |
| S/L | 0.0866 | likely_benign | 0.0865 | benign | -0.244 | Destabilizing | 0.062 | N | 0.349 | neutral | N | 0.499863251 | None | None | N |
| S/M | 0.1449 | likely_benign | 0.1461 | benign | -0.073 | Destabilizing | 0.555 | D | 0.364 | neutral | None | None | None | None | N |
| S/N | 0.07 | likely_benign | 0.0721 | benign | -0.117 | Destabilizing | None | N | 0.069 | neutral | None | None | None | None | N |
| S/P | 0.1521 | likely_benign | 0.1446 | benign | -0.304 | Destabilizing | 0.317 | N | 0.43 | neutral | N | 0.47344744 | None | None | N |
| S/Q | 0.217 | likely_benign | 0.2196 | benign | -0.312 | Destabilizing | 0.555 | D | 0.379 | neutral | None | None | None | None | N |
| S/R | 0.1509 | likely_benign | 0.157 | benign | -0.232 | Destabilizing | 0.149 | N | 0.441 | neutral | None | None | None | None | N |
| S/T | 0.0693 | likely_benign | 0.071 | benign | -0.259 | Destabilizing | None | N | 0.073 | neutral | N | 0.436659921 | None | None | N |
| S/V | 0.1137 | likely_benign | 0.1154 | benign | -0.304 | Destabilizing | 0.081 | N | 0.369 | neutral | None | None | None | None | N |
| S/W | 0.1785 | likely_benign | 0.1927 | benign | -0.961 | Destabilizing | 0.935 | D | 0.529 | neutral | None | None | None | None | N |
| S/Y | 0.0941 | likely_benign | 0.0938 | benign | -0.687 | Destabilizing | 0.555 | D | 0.416 | 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.