Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31730 | 95413;95414;95415 | chr2:178546048;178546047;178546046 | chr2:179410775;179410774;179410773 |
| N2AB | 30089 | 90490;90491;90492 | chr2:178546048;178546047;178546046 | chr2:179410775;179410774;179410773 |
| N2A | 29162 | 87709;87710;87711 | chr2:178546048;178546047;178546046 | chr2:179410775;179410774;179410773 |
| N2B | 22665 | 68218;68219;68220 | chr2:178546048;178546047;178546046 | chr2:179410775;179410774;179410773 |
| Novex-1 | 22790 | 68593;68594;68595 | chr2:178546048;178546047;178546046 | chr2:179410775;179410774;179410773 |
| Novex-2 | 22857 | 68794;68795;68796 | chr2:178546048;178546047;178546046 | chr2:179410775;179410774;179410773 |
| 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/C | rs1213250473  |
None | 0.851 | N | 0.429 | 0.282 | 0.40032279838 | gnomAD-4.0.0 | 6.15831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09556E-06 | 0 | 0 |
| S/G | rs1213250473 |
-0.861 | 0.042 | N | 0.241 | 0.13 | 0.144782658237 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/G | rs1213250473 |
-0.861 | 0.042 | N | 0.241 | 0.13 | 0.144782658237 | gnomAD-4.0.0 | 6.84257E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99507E-07 | 0 | 0 |
| S/N | rs2555816 |
None | None | N | 0.103 | 0.073 | 0.0551355673512 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.085 | likely_benign | 0.0928 | benign | -0.593 | Destabilizing | 0.025 | N | 0.169 | neutral | None | None | None | None | N |
| S/C | 0.0932 | likely_benign | 0.0987 | benign | -0.459 | Destabilizing | 0.851 | D | 0.429 | neutral | N | 0.472057255 | None | None | N |
| S/D | 0.1609 | likely_benign | 0.1611 | benign | 0.078 | Stabilizing | 0.055 | N | 0.24 | neutral | None | None | None | None | N |
| S/E | 0.2372 | likely_benign | 0.2306 | benign | 0.085 | Stabilizing | 0.002 | N | 0.131 | neutral | None | None | None | None | N |
| S/F | 0.2064 | likely_benign | 0.264 | benign | -0.869 | Destabilizing | 0.667 | D | 0.497 | neutral | None | None | None | None | N |
| S/G | 0.0743 | likely_benign | 0.0722 | benign | -0.835 | Destabilizing | 0.042 | N | 0.241 | neutral | N | 0.463745814 | None | None | N |
| S/H | 0.1754 | likely_benign | 0.169 | benign | -1.227 | Destabilizing | 0.497 | N | 0.46 | neutral | None | None | None | None | N |
| S/I | 0.1443 | likely_benign | 0.158 | benign | -0.061 | Destabilizing | 0.096 | N | 0.58 | neutral | N | 0.519503096 | None | None | N |
| S/K | 0.3262 | likely_benign | 0.3085 | benign | -0.525 | Destabilizing | None | N | 0.103 | neutral | None | None | None | None | N |
| S/L | 0.0975 | likely_benign | 0.1126 | benign | -0.061 | Destabilizing | 0.055 | N | 0.386 | neutral | None | None | None | None | N |
| S/M | 0.1453 | likely_benign | 0.1612 | benign | -0.022 | Destabilizing | 0.667 | D | 0.459 | neutral | None | None | None | None | N |
| S/N | 0.0629 | likely_benign | 0.0608 | benign | -0.531 | Destabilizing | None | N | 0.103 | neutral | N | 0.433614908 | None | None | N |
| S/P | 0.4018 | ambiguous | 0.4548 | ambiguous | -0.204 | Destabilizing | 0.364 | N | 0.425 | neutral | None | None | None | None | N |
| S/Q | 0.2321 | likely_benign | 0.2215 | benign | -0.58 | Destabilizing | 0.124 | N | 0.279 | neutral | None | None | None | None | N |
| S/R | 0.3043 | likely_benign | 0.2901 | benign | -0.463 | Destabilizing | 0.042 | N | 0.404 | neutral | N | 0.456857127 | None | None | N |
| S/T | 0.0772 | likely_benign | 0.0825 | benign | -0.532 | Destabilizing | None | N | 0.121 | neutral | N | 0.421280329 | None | None | N |
| S/V | 0.1462 | likely_benign | 0.164 | benign | -0.204 | Destabilizing | 0.124 | N | 0.429 | neutral | None | None | None | None | N |
| S/W | 0.3224 | likely_benign | 0.3657 | ambiguous | -0.904 | Destabilizing | 0.958 | D | 0.517 | neutral | None | None | None | None | N |
| S/Y | 0.155 | likely_benign | 0.178 | benign | -0.597 | Destabilizing | 0.667 | D | 0.514 | 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.