Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30841 | 92746;92747;92748 | chr2:178549105;178549104;178549103 | chr2:179413832;179413831;179413830 |
| N2AB | 29200 | 87823;87824;87825 | chr2:178549105;178549104;178549103 | chr2:179413832;179413831;179413830 |
| N2A | 28273 | 85042;85043;85044 | chr2:178549105;178549104;178549103 | chr2:179413832;179413831;179413830 |
| N2B | 21776 | 65551;65552;65553 | chr2:178549105;178549104;178549103 | chr2:179413832;179413831;179413830 |
| Novex-1 | 21901 | 65926;65927;65928 | chr2:178549105;178549104;178549103 | chr2:179413832;179413831;179413830 |
| Novex-2 | 21968 | 66127;66128;66129 | chr2:178549105;178549104;178549103 | chr2:179413832;179413831;179413830 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs761617318  |
-1.968 | 0.984 | N | 0.599 | 0.374 | 0.392395365052 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs761617318 |
-1.968 | 0.984 | N | 0.599 | 0.374 | 0.392395365052 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs761617318 |
-1.968 | 0.984 | N | 0.599 | 0.374 | 0.392395365052 | gnomAD-4.0.0 | 1.31423E-05 | None | None | None | None | N | None | 4.82509E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs765241194 |
-1.025 | 1.0 | N | 0.607 | 0.272 | 0.220303561663 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/Q | rs765241194 |
-1.025 | 1.0 | N | 0.607 | 0.272 | 0.220303561663 | gnomAD-4.0.0 | 1.5911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1414 | likely_benign | 0.1399 | benign | -1.186 | Destabilizing | 0.619 | D | 0.451 | neutral | N | 0.400694413 | None | None | N |
| E/C | 0.8028 | likely_pathogenic | 0.8004 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/D | 0.2911 | likely_benign | 0.2579 | benign | -1.289 | Destabilizing | 0.996 | D | 0.441 | neutral | N | 0.509766105 | None | None | N |
| E/F | 0.8022 | likely_pathogenic | 0.8087 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/G | 0.2453 | likely_benign | 0.2299 | benign | -1.584 | Destabilizing | 0.984 | D | 0.599 | neutral | N | 0.477173684 | None | None | N |
| E/H | 0.5873 | likely_pathogenic | 0.5973 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| E/I | 0.4525 | ambiguous | 0.468 | ambiguous | -0.076 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| E/K | 0.3687 | ambiguous | 0.383 | ambiguous | -0.847 | Destabilizing | 0.992 | D | 0.439 | neutral | N | 0.458894567 | None | None | N |
| E/L | 0.4692 | ambiguous | 0.4847 | ambiguous | -0.076 | Destabilizing | 0.998 | D | 0.7 | prob.neutral | None | None | None | None | N |
| E/M | 0.4898 | ambiguous | 0.5079 | ambiguous | 0.533 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| E/N | 0.4459 | ambiguous | 0.4294 | ambiguous | -1.277 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| E/P | 0.9879 | likely_pathogenic | 0.9856 | pathogenic | -0.427 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| E/Q | 0.1392 | likely_benign | 0.1445 | benign | -1.126 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.470572999 | None | None | N |
| E/R | 0.4554 | ambiguous | 0.474 | ambiguous | -0.631 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| E/S | 0.204 | likely_benign | 0.1973 | benign | -1.753 | Destabilizing | 0.988 | D | 0.449 | neutral | None | None | None | None | N |
| E/T | 0.2153 | likely_benign | 0.2227 | benign | -1.402 | Destabilizing | 0.998 | D | 0.687 | prob.neutral | None | None | None | None | N |
| E/V | 0.2732 | likely_benign | 0.2893 | benign | -0.427 | Destabilizing | 0.998 | D | 0.673 | neutral | N | 0.490084266 | None | None | N |
| E/W | 0.9402 | likely_pathogenic | 0.94 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/Y | 0.7411 | likely_pathogenic | 0.7356 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.785 | deleterious | 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.