Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22024 | 66295;66296;66297 | chr2:178582386;178582385;178582384 | chr2:179447113;179447112;179447111 |
| N2AB | 20383 | 61372;61373;61374 | chr2:178582386;178582385;178582384 | chr2:179447113;179447112;179447111 |
| N2A | 19456 | 58591;58592;58593 | chr2:178582386;178582385;178582384 | chr2:179447113;179447112;179447111 |
| N2B | 12959 | 39100;39101;39102 | chr2:178582386;178582385;178582384 | chr2:179447113;179447112;179447111 |
| Novex-1 | 13084 | 39475;39476;39477 | chr2:178582386;178582385;178582384 | chr2:179447113;179447112;179447111 |
| Novex-2 | 13151 | 39676;39677;39678 | chr2:178582386;178582385;178582384 | chr2:179447113;179447112;179447111 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | rs748768545  |
-0.542 | 0.884 | N | 0.383 | 0.275 | 0.292062946507 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | rs748768545 |
-0.542 | 0.884 | N | 0.383 | 0.275 | 0.292062946507 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs748768545 |
-0.542 | 0.884 | N | 0.383 | 0.275 | 0.292062946507 | gnomAD-4.0.0 | 1.86023E-06 | None | None | None | None | N | None | 2.67201E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60241E-05 |
| H/R | None | None | 0.684 | N | 0.37 | 0.359 | 0.314417295294 | gnomAD-4.0.0 | 1.59336E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02847E-05 |
| H/Y | rs2047978270 |
None | 0.979 | N | 0.404 | 0.479 | 0.352693368174 | gnomAD-4.0.0 | 1.59337E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0281E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9392 | likely_pathogenic | 0.9324 | pathogenic | -0.723 | Destabilizing | 0.59 | D | 0.341 | neutral | None | None | None | None | N |
| H/C | 0.5926 | likely_pathogenic | 0.5474 | ambiguous | 0.134 | Stabilizing | 0.996 | D | 0.505 | neutral | None | None | None | None | N |
| H/D | 0.9228 | likely_pathogenic | 0.9192 | pathogenic | -0.707 | Destabilizing | 0.521 | D | 0.321 | neutral | N | 0.479647217 | None | None | N |
| H/E | 0.947 | likely_pathogenic | 0.9476 | pathogenic | -0.596 | Destabilizing | 0.742 | D | 0.315 | neutral | None | None | None | None | N |
| H/F | 0.8495 | likely_pathogenic | 0.8696 | pathogenic | 0.654 | Stabilizing | 0.984 | D | 0.397 | neutral | None | None | None | None | N |
| H/G | 0.9266 | likely_pathogenic | 0.9176 | pathogenic | -1.103 | Destabilizing | 0.59 | D | 0.341 | neutral | None | None | None | None | N |
| H/I | 0.9593 | likely_pathogenic | 0.9507 | pathogenic | 0.331 | Stabilizing | 0.953 | D | 0.495 | neutral | None | None | None | None | N |
| H/K | 0.8271 | likely_pathogenic | 0.8273 | pathogenic | -0.517 | Destabilizing | 0.742 | D | 0.321 | neutral | None | None | None | None | N |
| H/L | 0.7716 | likely_pathogenic | 0.7598 | pathogenic | 0.331 | Stabilizing | 0.815 | D | 0.44 | neutral | N | 0.473063851 | None | None | N |
| H/M | 0.9313 | likely_pathogenic | 0.9294 | pathogenic | 0.162 | Stabilizing | 0.996 | D | 0.439 | neutral | None | None | None | None | N |
| H/N | 0.4499 | ambiguous | 0.4259 | ambiguous | -0.755 | Destabilizing | 0.007 | N | 0.177 | neutral | N | 0.395093805 | None | None | N |
| H/P | 0.9797 | likely_pathogenic | 0.9734 | pathogenic | None | Stabilizing | 0.939 | D | 0.433 | neutral | N | 0.491675085 | None | None | N |
| H/Q | 0.8136 | likely_pathogenic | 0.814 | pathogenic | -0.496 | Destabilizing | 0.884 | D | 0.383 | neutral | N | 0.477266898 | None | None | N |
| H/R | 0.6256 | likely_pathogenic | 0.6248 | pathogenic | -1.075 | Destabilizing | 0.684 | D | 0.37 | neutral | N | 0.466183112 | None | None | N |
| H/S | 0.844 | likely_pathogenic | 0.8273 | pathogenic | -0.699 | Destabilizing | 0.101 | N | 0.27 | neutral | None | None | None | None | N |
| H/T | 0.9455 | likely_pathogenic | 0.9353 | pathogenic | -0.478 | Destabilizing | 0.59 | D | 0.37 | neutral | None | None | None | None | N |
| H/V | 0.9324 | likely_pathogenic | 0.9238 | pathogenic | None | Stabilizing | 0.953 | D | 0.449 | neutral | None | None | None | None | N |
| H/W | 0.8643 | likely_pathogenic | 0.8896 | pathogenic | 0.974 | Stabilizing | 0.996 | D | 0.54 | neutral | None | None | None | None | N |
| H/Y | 0.5447 | ambiguous | 0.5667 | pathogenic | 0.988 | Stabilizing | 0.979 | D | 0.404 | neutral | N | 0.491928575 | 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.