Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17893 | 53902;53903;53904 | chr2:178605618;178605617;178605616 | chr2:179470345;179470344;179470343 |
| N2AB | 16252 | 48979;48980;48981 | chr2:178605618;178605617;178605616 | chr2:179470345;179470344;179470343 |
| N2A | 15325 | 46198;46199;46200 | chr2:178605618;178605617;178605616 | chr2:179470345;179470344;179470343 |
| N2B | 8828 | 26707;26708;26709 | chr2:178605618;178605617;178605616 | chr2:179470345;179470344;179470343 |
| Novex-1 | 8953 | 27082;27083;27084 | chr2:178605618;178605617;178605616 | chr2:179470345;179470344;179470343 |
| Novex-2 | 9020 | 27283;27284;27285 | chr2:178605618;178605617;178605616 | chr2:179470345;179470344;179470343 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | N | 0.663 | 0.394 | 0.39843156188 | gnomAD-4.0.0 | 1.59511E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86617E-06 | 0 | 0 |
| P/H | None | None | 1.0 | N | 0.627 | 0.502 | 0.51891315781 | gnomAD-4.0.0 | 6.84928E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0026E-07 | 0 | 0 |
| P/R | rs1576340594  |
None | 1.0 | N | 0.678 | 0.442 | 0.494700469353 | gnomAD-4.0.0 | 6.84928E-07 | None | None | None | None | I | None | 2.99652E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.715 | 0.449 | 0.459906663326 | gnomAD-4.0.0 | 1.59511E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03122E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0974 | likely_benign | 0.0818 | benign | -0.485 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.520329815 | None | None | I |
| P/C | 0.5862 | likely_pathogenic | 0.4864 | ambiguous | -0.508 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| P/D | 0.3748 | ambiguous | 0.3058 | benign | -0.379 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| P/E | 0.2638 | likely_benign | 0.2233 | benign | -0.508 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| P/F | 0.584 | likely_pathogenic | 0.4811 | ambiguous | -0.806 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | I |
| P/G | 0.4169 | ambiguous | 0.346 | ambiguous | -0.613 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| P/H | 0.221 | likely_benign | 0.1741 | benign | -0.238 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.491224694 | None | None | I |
| P/I | 0.3278 | likely_benign | 0.2538 | benign | -0.304 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| P/K | 0.2532 | likely_benign | 0.2083 | benign | -0.355 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| P/L | 0.1601 | likely_benign | 0.1388 | benign | -0.304 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.505316478 | None | None | I |
| P/M | 0.3641 | ambiguous | 0.2895 | benign | -0.218 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | I |
| P/N | 0.3154 | likely_benign | 0.2502 | benign | -0.029 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| P/Q | 0.1667 | likely_benign | 0.1383 | benign | -0.328 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| P/R | 0.1835 | likely_benign | 0.1632 | benign | 0.19 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.472462102 | None | None | I |
| P/S | 0.158 | likely_benign | 0.1275 | benign | -0.38 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.478600941 | None | None | I |
| P/T | 0.1451 | likely_benign | 0.1214 | benign | -0.411 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.484121123 | None | None | I |
| P/V | 0.2182 | likely_benign | 0.1727 | benign | -0.33 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| P/W | 0.7538 | likely_pathogenic | 0.6797 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| P/Y | 0.5286 | ambiguous | 0.4429 | ambiguous | -0.554 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | I |
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.