Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15106 | 45541;45542;45543 | chr2:178621508;178621507;178621506 | chr2:179486235;179486234;179486233 |
| N2AB | 13465 | 40618;40619;40620 | chr2:178621508;178621507;178621506 | chr2:179486235;179486234;179486233 |
| N2A | 12538 | 37837;37838;37839 | chr2:178621508;178621507;178621506 | chr2:179486235;179486234;179486233 |
| N2B | 6041 | 18346;18347;18348 | chr2:178621508;178621507;178621506 | chr2:179486235;179486234;179486233 |
| Novex-1 | 6166 | 18721;18722;18723 | chr2:178621508;178621507;178621506 | chr2:179486235;179486234;179486233 |
| Novex-2 | 6233 | 18922;18923;18924 | chr2:178621508;178621507;178621506 | chr2:179486235;179486234;179486233 |
| 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 | 0.002 | D | 0.105 | 0.407 | 0.246215685461 | gnomAD-4.0.0 | 1.59412E-06 | None | None | None | None | N | None | 0 | 2.29221E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs756694133  |
0.041 | 0.642 | D | 0.468 | 0.521 | 0.384419519794 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/R | rs756694133 |
0.041 | 0.642 | D | 0.468 | 0.521 | 0.384419519794 | gnomAD-4.0.0 | 4.78231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58939E-06 | 0 | 0 |
| S/T | None | None | 0.01 | D | 0.097 | 0.363 | 0.210429274316 | gnomAD-4.0.0 | 1.59412E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86318E-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 | 0.0804 | likely_benign | 0.0776 | benign | -0.142 | Destabilizing | 0.013 | N | 0.099 | neutral | None | None | None | None | N |
| S/C | 0.1976 | likely_benign | 0.1758 | benign | -0.452 | Destabilizing | 0.993 | D | 0.438 | neutral | D | 0.681718166 | None | None | N |
| S/D | 0.3587 | ambiguous | 0.3015 | benign | 0.085 | Stabilizing | 0.543 | D | 0.327 | neutral | None | None | None | None | N |
| S/E | 0.4977 | ambiguous | 0.4517 | ambiguous | -0.015 | Destabilizing | 0.704 | D | 0.324 | neutral | None | None | None | None | N |
| S/F | 0.2196 | likely_benign | 0.1779 | benign | -0.878 | Destabilizing | 0.893 | D | 0.471 | neutral | None | None | None | None | N |
| S/G | 0.0877 | likely_benign | 0.0834 | benign | -0.195 | Destabilizing | 0.002 | N | 0.105 | neutral | D | 0.548476837 | None | None | N |
| S/H | 0.3664 | ambiguous | 0.334 | benign | -0.505 | Destabilizing | 0.944 | D | 0.445 | neutral | None | None | None | None | N |
| S/I | 0.2135 | likely_benign | 0.171 | benign | -0.134 | Destabilizing | 0.473 | N | 0.498 | neutral | D | 0.546621958 | None | None | N |
| S/K | 0.6262 | likely_pathogenic | 0.5796 | pathogenic | -0.388 | Destabilizing | 0.704 | D | 0.303 | neutral | None | None | None | None | N |
| S/L | 0.1273 | likely_benign | 0.1079 | benign | -0.134 | Destabilizing | 0.329 | N | 0.332 | neutral | None | None | None | None | N |
| S/M | 0.2492 | likely_benign | 0.2261 | benign | -0.213 | Destabilizing | 0.176 | N | 0.278 | neutral | None | None | None | None | N |
| S/N | 0.1401 | likely_benign | 0.1172 | benign | -0.215 | Destabilizing | 0.006 | N | 0.159 | neutral | N | 0.394636074 | None | None | N |
| S/P | 0.4369 | ambiguous | 0.3415 | ambiguous | -0.111 | Destabilizing | 0.828 | D | 0.469 | neutral | None | None | None | None | N |
| S/Q | 0.4954 | ambiguous | 0.477 | ambiguous | -0.405 | Destabilizing | 0.944 | D | 0.384 | neutral | None | None | None | None | N |
| S/R | 0.5488 | ambiguous | 0.4925 | ambiguous | -0.148 | Destabilizing | 0.642 | D | 0.468 | neutral | D | 0.580190606 | None | None | N |
| S/T | 0.083 | likely_benign | 0.0757 | benign | -0.298 | Destabilizing | 0.01 | N | 0.097 | neutral | D | 0.523283483 | None | None | N |
| S/V | 0.1952 | likely_benign | 0.1715 | benign | -0.111 | Destabilizing | 0.543 | D | 0.375 | neutral | None | None | None | None | N |
| S/W | 0.4534 | ambiguous | 0.3999 | ambiguous | -0.978 | Destabilizing | 0.995 | D | 0.485 | neutral | None | None | None | None | N |
| S/Y | 0.2207 | likely_benign | 0.1878 | benign | -0.646 | Destabilizing | 0.981 | D | 0.475 | 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.