Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24479 | 73660;73661;73662 | chr2:178572697;178572696;178572695 | chr2:179437424;179437423;179437422 |
| N2AB | 22838 | 68737;68738;68739 | chr2:178572697;178572696;178572695 | chr2:179437424;179437423;179437422 |
| N2A | 21911 | 65956;65957;65958 | chr2:178572697;178572696;178572695 | chr2:179437424;179437423;179437422 |
| N2B | 15414 | 46465;46466;46467 | chr2:178572697;178572696;178572695 | chr2:179437424;179437423;179437422 |
| Novex-1 | 15539 | 46840;46841;46842 | chr2:178572697;178572696;178572695 | chr2:179437424;179437423;179437422 |
| Novex-2 | 15606 | 47041;47042;47043 | chr2:178572697;178572696;178572695 | chr2:179437424;179437423;179437422 |
| 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/G | rs1303034746  |
None | 0.815 | N | 0.249 | 0.098 | 0.0716867268079 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs1303034746 |
None | 0.815 | N | 0.249 | 0.098 | 0.0716867268079 | gnomAD-4.0.0 | 2.56331E-06 | None | None | None | None | N | None | 3.38513E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0789 | likely_benign | 0.0824 | benign | -0.56 | Destabilizing | 0.543 | D | 0.333 | neutral | None | None | None | None | N |
| S/C | 0.1864 | likely_benign | 0.1899 | benign | -0.326 | Destabilizing | 0.994 | D | 0.351 | neutral | N | 0.478697894 | None | None | N |
| S/D | 0.3816 | ambiguous | 0.3914 | ambiguous | 0.353 | Stabilizing | 0.009 | N | 0.23 | neutral | None | None | None | None | N |
| S/E | 0.5296 | ambiguous | 0.5317 | ambiguous | 0.256 | Stabilizing | 0.59 | D | 0.257 | neutral | None | None | None | None | N |
| S/F | 0.3188 | likely_benign | 0.3581 | ambiguous | -1.178 | Destabilizing | 0.91 | D | 0.392 | neutral | None | None | None | None | N |
| S/G | 0.0893 | likely_benign | 0.0924 | benign | -0.652 | Destabilizing | 0.815 | D | 0.249 | neutral | N | 0.419455453 | None | None | N |
| S/H | 0.4743 | ambiguous | 0.4931 | ambiguous | -1.218 | Destabilizing | 0.996 | D | 0.31 | neutral | None | None | None | None | N |
| S/I | 0.2533 | likely_benign | 0.2704 | benign | -0.443 | Destabilizing | 0.015 | N | 0.293 | neutral | N | 0.46034015 | None | None | N |
| S/K | 0.7975 | likely_pathogenic | 0.8137 | pathogenic | -0.394 | Destabilizing | 0.854 | D | 0.288 | neutral | None | None | None | None | N |
| S/L | 0.1295 | likely_benign | 0.1413 | benign | -0.443 | Destabilizing | 0.331 | N | 0.351 | neutral | None | None | None | None | N |
| S/M | 0.2441 | likely_benign | 0.2541 | benign | -0.105 | Destabilizing | 0.974 | D | 0.31 | neutral | None | None | None | None | N |
| S/N | 0.1456 | likely_benign | 0.154 | benign | -0.088 | Destabilizing | 0.684 | D | 0.34 | neutral | N | 0.482971001 | None | None | N |
| S/P | 0.116 | likely_benign | 0.1249 | benign | -0.456 | Destabilizing | 0.004 | N | 0.259 | neutral | None | None | None | None | N |
| S/Q | 0.5674 | likely_pathogenic | 0.5838 | pathogenic | -0.371 | Destabilizing | 0.953 | D | 0.289 | neutral | None | None | None | None | N |
| S/R | 0.7733 | likely_pathogenic | 0.7912 | pathogenic | -0.258 | Destabilizing | 0.939 | D | 0.314 | neutral | N | 0.508618807 | None | None | N |
| S/T | 0.0916 | likely_benign | 0.0953 | benign | -0.261 | Destabilizing | 0.684 | D | 0.295 | neutral | N | 0.513640624 | None | None | N |
| S/V | 0.2198 | likely_benign | 0.2377 | benign | -0.456 | Destabilizing | 0.331 | N | 0.355 | neutral | None | None | None | None | N |
| S/W | 0.5677 | likely_pathogenic | 0.5818 | pathogenic | -1.127 | Destabilizing | 0.996 | D | 0.517 | neutral | None | None | None | None | N |
| S/Y | 0.3298 | likely_benign | 0.3681 | ambiguous | -0.864 | Destabilizing | 0.953 | D | 0.389 | 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.