Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 59 | 400;401;402 | chr2:178802258;178802257;178802256 | chr2:179666985;179666984;179666983 |
| N2AB | 59 | 400;401;402 | chr2:178802258;178802257;178802256 | chr2:179666985;179666984;179666983 |
| N2A | 59 | 400;401;402 | chr2:178802258;178802257;178802256 | chr2:179666985;179666984;179666983 |
| N2B | 59 | 400;401;402 | chr2:178802258;178802257;178802256 | chr2:179666985;179666984;179666983 |
| Novex-1 | 59 | 400;401;402 | chr2:178802258;178802257;178802256 | chr2:179666985;179666984;179666983 |
| Novex-2 | 59 | 400;401;402 | chr2:178802258;178802257;178802256 | chr2:179666985;179666984;179666983 |
| Novex-3 | 59 | 400;401;402 | chr2:178802258;178802257;178802256 | chr2:179666985;179666984;179666983 |
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/R | rs191057824  |
0.249 | 1.0 | N | 0.649 | 0.528 | 0.460795861206 | gnomAD-2.1.1 | 5.31E-05 | None | None | None | -0.455(TCAP) | N | None | 4.01E-05 | 5.64E-05 | None | 0 | 0 | None | 0 | None | 0 | 9.3E-05 | 0 |
| S/R | rs191057824 |
0.249 | 1.0 | N | 0.649 | 0.528 | 0.460795861206 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | -0.455(TCAP) | N | None | 7.24E-05 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| S/R | rs191057824 |
0.249 | 1.0 | N | 0.649 | 0.528 | 0.460795861206 | gnomAD-4.0.0 | 8.86006E-05 | None | None | None | -0.455(TCAP) | N | None | 4.00513E-05 | 8.33278E-05 | None | 0 | 0 | None | 0 | 0 | 1.09321E-04 | 0 | 9.60215E-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 | 0.088 | likely_benign | 0.0897 | benign | -0.284 | Destabilizing | 0.868 | D | 0.37 | neutral | None | None | None | 0.154(TCAP) | N |
| S/C | 0.3618 | ambiguous | 0.3324 | benign | -0.342 | Destabilizing | 1.0 | D | 0.657 | neutral | D | 0.572086165 | None | -0.307(TCAP) | N |
| S/D | 0.4118 | ambiguous | 0.4176 | ambiguous | 0.415 | Stabilizing | 0.995 | D | 0.512 | neutral | None | None | None | -0.405(TCAP) | N |
| S/E | 0.4217 | ambiguous | 0.4245 | ambiguous | 0.32 | Stabilizing | 0.997 | D | 0.505 | neutral | None | None | None | -0.521(TCAP) | N |
| S/F | 0.2383 | likely_benign | 0.2209 | benign | -0.959 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | -0.115(TCAP) | N |
| S/G | 0.1233 | likely_benign | 0.1267 | benign | -0.363 | Destabilizing | 0.997 | D | 0.405 | neutral | N | 0.491753705 | None | 0.196(TCAP) | N |
| S/H | 0.3392 | likely_benign | 0.3405 | ambiguous | -0.73 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | 0.642(TCAP) | N |
| S/I | 0.1723 | likely_benign | 0.1692 | benign | -0.211 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.472981508 | None | -0.031(TCAP) | N |
| S/K | 0.5843 | likely_pathogenic | 0.5924 | pathogenic | -0.298 | Destabilizing | 0.999 | D | 0.502 | neutral | None | None | None | -0.551(TCAP) | N |
| S/L | 0.1274 | likely_benign | 0.119 | benign | -0.211 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | -0.031(TCAP) | N |
| S/M | 0.2368 | likely_benign | 0.2326 | benign | -0.17 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | 0.3(TCAP) | N |
| S/N | 0.1694 | likely_benign | 0.1665 | benign | -0.086 | Destabilizing | 0.95 | D | 0.479 | neutral | N | 0.46938851 | None | -0.592(TCAP) | N |
| S/P | 0.7027 | likely_pathogenic | 0.6888 | pathogenic | -0.208 | Destabilizing | 0.999 | D | 0.658 | neutral | None | None | None | 0.04(TCAP) | N |
| S/Q | 0.3925 | ambiguous | 0.4061 | ambiguous | -0.278 | Destabilizing | 1.0 | D | 0.634 | neutral | None | None | None | -0.533(TCAP) | N |
| S/R | 0.438 | ambiguous | 0.4388 | ambiguous | -0.11 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.482974828 | None | -0.455(TCAP) | N |
| S/T | 0.0798 | likely_benign | 0.0808 | benign | -0.211 | Destabilizing | 0.95 | D | 0.391 | neutral | N | 0.480923153 | None | -0.44(TCAP) | N |
| S/V | 0.1907 | likely_benign | 0.1918 | benign | -0.208 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | 0.04(TCAP) | N |
| S/W | 0.4139 | ambiguous | 0.3978 | ambiguous | -1.005 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | -0.231(TCAP) | N |
| S/Y | 0.2725 | likely_benign | 0.25 | benign | -0.692 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | 0.072(TCAP) | 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.