Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8086 | 24481;24482;24483 | chr2:178718944;178718943;178718942 | chr2:179583671;179583670;179583669 |
| N2AB | 7769 | 23530;23531;23532 | chr2:178718944;178718943;178718942 | chr2:179583671;179583670;179583669 |
| N2A | 6842 | 20749;20750;20751 | chr2:178718944;178718943;178718942 | chr2:179583671;179583670;179583669 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/F | rs754194524  |
-0.861 | 0.912 | N | 0.484 | 0.437 | 0.550589291799 | gnomAD-2.1.1 | 7.29E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.6E-05 | 0 |
| S/F | rs754194524 |
-0.861 | 0.912 | N | 0.484 | 0.437 | 0.550589291799 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs754194524 |
-0.861 | 0.912 | N | 0.484 | 0.437 | 0.550589291799 | gnomAD-4.0.0 | 1.49063E-05 | None | None | None | None | N | None | 1.33718E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61283E-05 | 0 | 6.41581E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0602 | likely_benign | 0.0592 | benign | -0.38 | Destabilizing | 0.09 | N | 0.386 | neutral | N | 0.473756872 | None | None | N |
| S/C | 0.159 | likely_benign | 0.1434 | benign | -0.28 | Destabilizing | 0.975 | D | 0.441 | neutral | N | 0.474609744 | None | None | N |
| S/D | 0.2322 | likely_benign | 0.2436 | benign | 0.144 | Stabilizing | 0.388 | N | 0.289 | neutral | None | None | None | None | N |
| S/E | 0.3179 | likely_benign | 0.3434 | ambiguous | 0.082 | Stabilizing | 0.388 | N | 0.288 | neutral | None | None | None | None | N |
| S/F | 0.188 | likely_benign | 0.1703 | benign | -0.812 | Destabilizing | 0.912 | D | 0.484 | neutral | N | 0.485370165 | None | None | N |
| S/G | 0.1026 | likely_benign | 0.1016 | benign | -0.549 | Destabilizing | 0.207 | N | 0.314 | neutral | None | None | None | None | N |
| S/H | 0.2306 | likely_benign | 0.2489 | benign | -1.02 | Destabilizing | 0.981 | D | 0.422 | neutral | None | None | None | None | N |
| S/I | 0.1667 | likely_benign | 0.1568 | benign | -0.061 | Destabilizing | 0.818 | D | 0.472 | neutral | None | None | None | None | N |
| S/K | 0.392 | ambiguous | 0.4246 | ambiguous | -0.56 | Destabilizing | 0.388 | N | 0.288 | neutral | None | None | None | None | N |
| S/L | 0.0952 | likely_benign | 0.0882 | benign | -0.061 | Destabilizing | 0.388 | N | 0.416 | neutral | None | None | None | None | N |
| S/M | 0.1934 | likely_benign | 0.1883 | benign | 0.069 | Stabilizing | 0.981 | D | 0.421 | neutral | None | None | None | None | N |
| S/N | 0.1224 | likely_benign | 0.1202 | benign | -0.323 | Destabilizing | 0.563 | D | 0.418 | neutral | None | None | None | None | N |
| S/P | 0.0621 | likely_benign | 0.065 | benign | -0.135 | Destabilizing | None | N | 0.179 | neutral | N | 0.390466271 | None | None | N |
| S/Q | 0.309 | likely_benign | 0.3365 | benign | -0.498 | Destabilizing | 0.818 | D | 0.401 | neutral | None | None | None | None | N |
| S/R | 0.3083 | likely_benign | 0.3348 | benign | -0.389 | Destabilizing | 0.818 | D | 0.448 | neutral | None | None | None | None | N |
| S/T | 0.0837 | likely_benign | 0.0819 | benign | -0.382 | Destabilizing | 0.324 | N | 0.361 | neutral | N | 0.49828717 | None | None | N |
| S/V | 0.1542 | likely_benign | 0.1468 | benign | -0.135 | Destabilizing | 0.388 | N | 0.425 | neutral | None | None | None | None | N |
| S/W | 0.2973 | likely_benign | 0.2936 | benign | -0.843 | Destabilizing | 0.981 | D | 0.589 | neutral | None | None | None | None | N |
| S/Y | 0.1633 | likely_benign | 0.1558 | benign | -0.56 | Destabilizing | 0.912 | D | 0.485 | neutral | N | 0.45599851 | 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.