Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24534 | 73825;73826;73827 | chr2:178572532;178572531;178572530 | chr2:179437259;179437258;179437257 |
| N2AB | 22893 | 68902;68903;68904 | chr2:178572532;178572531;178572530 | chr2:179437259;179437258;179437257 |
| N2A | 21966 | 66121;66122;66123 | chr2:178572532;178572531;178572530 | chr2:179437259;179437258;179437257 |
| N2B | 15469 | 46630;46631;46632 | chr2:178572532;178572531;178572530 | chr2:179437259;179437258;179437257 |
| Novex-1 | 15594 | 47005;47006;47007 | chr2:178572532;178572531;178572530 | chr2:179437259;179437258;179437257 |
| Novex-2 | 15661 | 47206;47207;47208 | chr2:178572532;178572531;178572530 | chr2:179437259;179437258;179437257 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/P | rs767625831  |
None | 0.071 | N | 0.365 | 0.212 | 0.28492961333 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/P | rs767625831 |
None | 0.071 | N | 0.365 | 0.212 | 0.28492961333 | gnomAD-4.0.0 | 1.31496E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94161E-05 | 0 | 0 |
| T/S | rs767625831 |
-0.556 | None | N | 0.036 | 0.1 | 0.0986583533028 | gnomAD-4.0.0 | 2.05303E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47883E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0725 | likely_benign | 0.0666 | benign | -0.759 | Destabilizing | None | N | 0.05 | neutral | N | 0.476928542 | None | None | N |
| T/C | 0.3021 | likely_benign | 0.2663 | benign | -0.535 | Destabilizing | 0.554 | D | 0.344 | neutral | None | None | None | None | N |
| T/D | 0.1932 | likely_benign | 0.185 | benign | -0.778 | Destabilizing | None | N | 0.074 | neutral | None | None | None | None | N |
| T/E | 0.2117 | likely_benign | 0.1921 | benign | -0.81 | Destabilizing | None | N | 0.095 | neutral | None | None | None | None | N |
| T/F | 0.1761 | likely_benign | 0.1568 | benign | -1.081 | Destabilizing | 0.816 | D | 0.428 | neutral | None | None | None | None | N |
| T/G | 0.1301 | likely_benign | 0.1207 | benign | -0.959 | Destabilizing | 0.08 | N | 0.275 | neutral | None | None | None | None | N |
| T/H | 0.1931 | likely_benign | 0.1806 | benign | -1.356 | Destabilizing | 0.625 | D | 0.393 | neutral | None | None | None | None | N |
| T/I | 0.1901 | likely_benign | 0.1552 | benign | -0.323 | Destabilizing | 0.15 | N | 0.426 | neutral | N | 0.474049173 | None | None | N |
| T/K | 0.2656 | likely_benign | 0.2228 | benign | -0.746 | Destabilizing | None | N | 0.128 | neutral | N | 0.477485902 | None | None | N |
| T/L | 0.0905 | likely_benign | 0.08 | benign | -0.323 | Destabilizing | 0.046 | N | 0.323 | neutral | None | None | None | None | N |
| T/M | 0.0823 | likely_benign | 0.0767 | benign | 0.164 | Stabilizing | 0.835 | D | 0.345 | neutral | None | None | None | None | N |
| T/N | 0.0611 | likely_benign | 0.062 | benign | -0.702 | Destabilizing | 0.01 | N | 0.199 | neutral | None | None | None | None | N |
| T/P | 0.4832 | ambiguous | 0.351 | ambiguous | -0.439 | Destabilizing | 0.071 | N | 0.365 | neutral | N | 0.481139517 | None | None | N |
| T/Q | 0.2023 | likely_benign | 0.1807 | benign | -1.028 | Destabilizing | 0.052 | N | 0.361 | neutral | None | None | None | None | N |
| T/R | 0.2647 | likely_benign | 0.213 | benign | -0.403 | Destabilizing | 0.191 | N | 0.331 | neutral | N | 0.441487816 | None | None | N |
| T/S | 0.062 | likely_benign | 0.0645 | benign | -0.885 | Destabilizing | None | N | 0.036 | neutral | N | 0.434655058 | None | None | N |
| T/V | 0.1471 | likely_benign | 0.1265 | benign | -0.439 | Destabilizing | 0.033 | N | 0.195 | neutral | None | None | None | None | N |
| T/W | 0.5311 | ambiguous | 0.4692 | ambiguous | -1.013 | Destabilizing | 0.981 | D | 0.389 | neutral | None | None | None | None | N |
| T/Y | 0.1752 | likely_benign | 0.1546 | benign | -0.751 | Destabilizing | 0.816 | D | 0.427 | 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.