Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8216 | 24871;24872;24873 | chr2:178718460;178718459;178718458 | chr2:179583187;179583186;179583185 |
| N2AB | 7899 | 23920;23921;23922 | chr2:178718460;178718459;178718458 | chr2:179583187;179583186;179583185 |
| N2A | 6972 | 21139;21140;21141 | chr2:178718460;178718459;178718458 | chr2:179583187;179583186;179583185 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs561781856  |
-0.458 | None | N | 0.073 | 0.094 | 0.0611884634855 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/K | rs561781856 |
-0.458 | None | N | 0.073 | 0.094 | 0.0611884634855 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/K | rs561781856 |
-0.458 | None | N | 0.073 | 0.094 | 0.0611884634855 | gnomAD-4.0.0 | 2.56192E-06 | None | None | None | None | N | None | 0 | 3.38857E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | None | None | None | N | 0.149 | 0.131 | 0.0297737177859 | gnomAD-4.0.0 | 6.84222E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99486E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1617 | likely_benign | 0.1701 | benign | -0.322 | Destabilizing | 0.004 | N | 0.217 | neutral | None | None | None | None | N |
| R/C | 0.1453 | likely_benign | 0.1473 | benign | -0.215 | Destabilizing | 0.245 | N | 0.389 | neutral | None | None | None | None | N |
| R/D | 0.2076 | likely_benign | 0.213 | benign | 0.185 | Stabilizing | None | N | 0.207 | neutral | None | None | None | None | N |
| R/E | 0.1884 | likely_benign | 0.1937 | benign | 0.288 | Stabilizing | 0.004 | N | 0.154 | neutral | None | None | None | None | N |
| R/F | 0.2916 | likely_benign | 0.3111 | benign | -0.313 | Destabilizing | 0.245 | N | 0.481 | neutral | None | None | None | None | N |
| R/G | 0.1052 | likely_benign | 0.1046 | benign | -0.601 | Destabilizing | 0.003 | N | 0.251 | neutral | N | 0.476107909 | None | None | N |
| R/H | 0.0651 | likely_benign | 0.0683 | benign | -1.032 | Destabilizing | 0.138 | N | 0.311 | neutral | None | None | None | None | N |
| R/I | 0.1439 | likely_benign | 0.1414 | benign | 0.406 | Stabilizing | 0.033 | N | 0.495 | neutral | N | 0.490453182 | None | None | N |
| R/K | 0.0687 | likely_benign | 0.0692 | benign | -0.216 | Destabilizing | None | N | 0.073 | neutral | N | 0.462291871 | None | None | N |
| R/L | 0.1377 | likely_benign | 0.1417 | benign | 0.406 | Stabilizing | 0.018 | N | 0.307 | neutral | None | None | None | None | N |
| R/M | 0.1507 | likely_benign | 0.1518 | benign | 0.048 | Stabilizing | 0.497 | N | 0.365 | neutral | None | None | None | None | N |
| R/N | 0.1148 | likely_benign | 0.1132 | benign | 0.252 | Stabilizing | None | N | 0.057 | neutral | None | None | None | None | N |
| R/P | 0.4666 | ambiguous | 0.4752 | ambiguous | 0.185 | Stabilizing | 0.044 | N | 0.413 | neutral | None | None | None | None | N |
| R/Q | 0.0842 | likely_benign | 0.0883 | benign | 0.089 | Stabilizing | 0.001 | N | 0.13 | neutral | None | None | None | None | N |
| R/S | 0.14 | likely_benign | 0.151 | benign | -0.386 | Destabilizing | None | N | 0.149 | neutral | N | 0.483109348 | None | None | N |
| R/T | 0.0957 | likely_benign | 0.1033 | benign | -0.112 | Destabilizing | 0.007 | N | 0.273 | neutral | N | 0.476361399 | None | None | N |
| R/V | 0.2076 | likely_benign | 0.2095 | benign | 0.185 | Stabilizing | 0.044 | N | 0.41 | neutral | None | None | None | None | N |
| R/W | 0.1656 | likely_benign | 0.1737 | benign | -0.128 | Destabilizing | 0.788 | D | 0.398 | neutral | None | None | None | None | N |
| R/Y | 0.1638 | likely_benign | 0.1688 | benign | 0.23 | Stabilizing | 0.245 | N | 0.486 | 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.