Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25012 | 75259;75260;75261 | chr2:178571098;178571097;178571096 | chr2:179435825;179435824;179435823 |
| N2AB | 23371 | 70336;70337;70338 | chr2:178571098;178571097;178571096 | chr2:179435825;179435824;179435823 |
| N2A | 22444 | 67555;67556;67557 | chr2:178571098;178571097;178571096 | chr2:179435825;179435824;179435823 |
| N2B | 15947 | 48064;48065;48066 | chr2:178571098;178571097;178571096 | chr2:179435825;179435824;179435823 |
| Novex-1 | 16072 | 48439;48440;48441 | chr2:178571098;178571097;178571096 | chr2:179435825;179435824;179435823 |
| Novex-2 | 16139 | 48640;48641;48642 | chr2:178571098;178571097;178571096 | chr2:179435825;179435824;179435823 |
| 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/Q | rs866517435  |
0.201 | 0.924 | N | 0.479 | 0.111 | 0.107399877778 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/Q | rs866517435 |
0.201 | 0.924 | N | 0.479 | 0.111 | 0.107399877778 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/Q | rs866517435 |
0.201 | 0.924 | N | 0.479 | 0.111 | 0.107399877778 | gnomAD-4.0.0 | 2.04558E-05 | None | None | None | None | N | None | 2.67137E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54328E-05 | 1.09815E-05 | 0 |
| R/W | rs368914555 |
-0.26 | 0.999 | N | 0.554 | 0.343 | None | gnomAD-2.1.1 | 7.90421E-04 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 6.78032E-04 | 2.05529E-04 | None | 6.21281E-03 | None | 0 | 8.62E-05 | 9.84806E-04 |
| R/W | rs368914555 |
-0.26 | 0.999 | N | 0.554 | 0.343 | None | gnomAD-3.1.2 | 2.50046E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 8.64553E-04 | 1.93949E-04 | None | 0 | 0 | 7.36E-05 | 5.81637E-03 | 4.78011E-04 |
| R/W | rs368914555 |
-0.26 | 0.999 | N | 0.554 | 0.343 | None | 1000 genomes | 1.99681E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1.02E-02 | None |
| R/W | rs368914555 |
-0.26 | 0.999 | N | 0.554 | 0.343 | None | gnomAD-4.0.0 | 4.09716E-04 | None | None | None | None | N | None | 5.33419E-05 | 6.66889E-05 | None | 6.42109E-04 | 1.785E-04 | None | 0 | 2.64288E-03 | 3.22152E-05 | 5.94179E-03 | 4.96286E-04 |
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 | 0.2822 | likely_benign | 0.259 | benign | -0.672 | Destabilizing | 0.543 | D | 0.381 | neutral | None | None | None | None | N |
| R/C | 0.1383 | likely_benign | 0.1301 | benign | -0.613 | Destabilizing | 0.996 | D | 0.413 | neutral | None | None | None | None | N |
| R/D | 0.6578 | likely_pathogenic | 0.6234 | pathogenic | -0.137 | Destabilizing | 0.854 | D | 0.417 | neutral | None | None | None | None | N |
| R/E | 0.2851 | likely_benign | 0.28 | benign | -0.068 | Destabilizing | 0.543 | D | 0.379 | neutral | None | None | None | None | N |
| R/F | 0.4433 | ambiguous | 0.4019 | ambiguous | -0.844 | Destabilizing | 0.984 | D | 0.407 | neutral | None | None | None | None | N |
| R/G | 0.2635 | likely_benign | 0.2286 | benign | -0.902 | Destabilizing | 0.846 | D | 0.415 | neutral | N | 0.485635665 | None | None | N |
| R/H | 0.1142 | likely_benign | 0.1073 | benign | -1.255 | Destabilizing | 0.984 | D | 0.47 | neutral | None | None | None | None | N |
| R/I | 0.1889 | likely_benign | 0.1721 | benign | -0.08 | Destabilizing | 0.953 | D | 0.427 | neutral | None | None | None | None | N |
| R/K | 0.0705 | likely_benign | 0.0677 | benign | -0.681 | Destabilizing | 0.016 | N | 0.109 | neutral | None | None | None | None | N |
| R/L | 0.1857 | likely_benign | 0.165 | benign | -0.08 | Destabilizing | 0.846 | D | 0.418 | neutral | N | 0.51717208 | None | None | N |
| R/M | 0.1783 | likely_benign | 0.1642 | benign | -0.233 | Destabilizing | 0.984 | D | 0.441 | neutral | None | None | None | None | N |
| R/N | 0.4333 | ambiguous | 0.412 | ambiguous | -0.121 | Destabilizing | 0.854 | D | 0.45 | neutral | None | None | None | None | N |
| R/P | 0.3872 | ambiguous | 0.3406 | ambiguous | -0.257 | Destabilizing | 0.017 | N | 0.249 | neutral | N | 0.41400764 | None | None | N |
| R/Q | 0.0875 | likely_benign | 0.0878 | benign | -0.399 | Destabilizing | 0.924 | D | 0.479 | neutral | N | 0.459643929 | None | None | N |
| R/S | 0.3642 | ambiguous | 0.338 | benign | -0.806 | Destabilizing | 0.742 | D | 0.397 | neutral | None | None | None | None | N |
| R/T | 0.1393 | likely_benign | 0.1328 | benign | -0.589 | Destabilizing | 0.742 | D | 0.424 | neutral | None | None | None | None | N |
| R/V | 0.2462 | likely_benign | 0.2314 | benign | -0.257 | Destabilizing | 0.854 | D | 0.416 | neutral | None | None | None | None | N |
| R/W | 0.216 | likely_benign | 0.2018 | benign | -0.626 | Destabilizing | 0.999 | D | 0.554 | neutral | N | 0.484891137 | None | None | N |
| R/Y | 0.346 | ambiguous | 0.3122 | benign | -0.28 | Destabilizing | 0.984 | D | 0.426 | 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.