Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27979 | 84160;84161;84162 | chr2:178562197;178562196;178562195 | chr2:179426924;179426923;179426922 |
| N2AB | 26338 | 79237;79238;79239 | chr2:178562197;178562196;178562195 | chr2:179426924;179426923;179426922 |
| N2A | 25411 | 76456;76457;76458 | chr2:178562197;178562196;178562195 | chr2:179426924;179426923;179426922 |
| N2B | 18914 | 56965;56966;56967 | chr2:178562197;178562196;178562195 | chr2:179426924;179426923;179426922 |
| Novex-1 | 19039 | 57340;57341;57342 | chr2:178562197;178562196;178562195 | chr2:179426924;179426923;179426922 |
| Novex-2 | 19106 | 57541;57542;57543 | chr2:178562197;178562196;178562195 | chr2:179426924;179426923;179426922 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs755935124  |
0.341 | None | N | 0.211 | 0.137 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| Q/R | rs755935124 |
0.341 | None | N | 0.211 | 0.137 | 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 |
| Q/R | rs755935124 |
0.341 | None | N | 0.211 | 0.137 | None | gnomAD-4.0.0 | 9.92063E-06 | None | None | None | None | N | None | 1.33615E-05 | 1.67029E-05 | None | 0 | 0 | None | 0 | 0 | 1.0174E-05 | 0 | 3.20441E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.117 | likely_benign | 0.1232 | benign | -0.347 | Destabilizing | 0.036 | N | 0.218 | neutral | None | None | None | None | N |
| Q/C | 0.5008 | ambiguous | 0.5018 | ambiguous | 0.083 | Stabilizing | 0.972 | D | 0.206 | neutral | None | None | None | None | N |
| Q/D | 0.1508 | likely_benign | 0.1506 | benign | 0.149 | Stabilizing | None | N | 0.127 | neutral | None | None | None | None | N |
| Q/E | 0.0704 | likely_benign | 0.0695 | benign | 0.197 | Stabilizing | 0.028 | N | 0.204 | neutral | N | 0.437062566 | None | None | N |
| Q/F | 0.542 | ambiguous | 0.5409 | ambiguous | -0.212 | Destabilizing | 0.901 | D | 0.257 | neutral | None | None | None | None | N |
| Q/G | 0.1707 | likely_benign | 0.1887 | benign | -0.637 | Destabilizing | None | N | 0.146 | neutral | None | None | None | None | N |
| Q/H | 0.1473 | likely_benign | 0.1492 | benign | -0.382 | Destabilizing | 0.693 | D | 0.214 | neutral | N | 0.462057011 | None | None | N |
| Q/I | 0.263 | likely_benign | 0.2503 | benign | 0.354 | Stabilizing | 0.46 | N | 0.34 | neutral | None | None | None | None | N |
| Q/K | 0.1071 | likely_benign | 0.1138 | benign | -0.024 | Destabilizing | 0.028 | N | 0.207 | neutral | N | 0.427981723 | None | None | N |
| Q/L | 0.1076 | likely_benign | 0.1092 | benign | 0.354 | Stabilizing | 0.116 | N | 0.269 | neutral | N | 0.475447596 | None | None | N |
| Q/M | 0.2577 | likely_benign | 0.2622 | benign | 0.537 | Stabilizing | 0.901 | D | 0.227 | neutral | None | None | None | None | N |
| Q/N | 0.1139 | likely_benign | 0.1177 | benign | -0.511 | Destabilizing | 0.08 | N | 0.208 | neutral | None | None | None | None | N |
| Q/P | 0.0568 | likely_benign | 0.0633 | benign | 0.152 | Stabilizing | None | N | 0.172 | neutral | N | 0.411300117 | None | None | N |
| Q/R | 0.1359 | likely_benign | 0.1433 | benign | 0.07 | Stabilizing | None | N | 0.211 | neutral | N | 0.424018698 | None | None | N |
| Q/S | 0.1179 | likely_benign | 0.1243 | benign | -0.587 | Destabilizing | 0.07 | N | 0.195 | neutral | None | None | None | None | N |
| Q/T | 0.1079 | likely_benign | 0.1126 | benign | -0.35 | Destabilizing | 0.148 | N | 0.268 | neutral | None | None | None | None | N |
| Q/V | 0.1719 | likely_benign | 0.1647 | benign | 0.152 | Stabilizing | 0.296 | N | 0.317 | neutral | None | None | None | None | N |
| Q/W | 0.4926 | ambiguous | 0.5016 | ambiguous | -0.122 | Destabilizing | 0.972 | D | 0.214 | neutral | None | None | None | None | N |
| Q/Y | 0.3121 | likely_benign | 0.3091 | benign | 0.108 | Stabilizing | 0.901 | D | 0.273 | 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.