Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24758 | 74497;74498;74499 | chr2:178571860;178571859;178571858 | chr2:179436587;179436586;179436585 |
| N2AB | 23117 | 69574;69575;69576 | chr2:178571860;178571859;178571858 | chr2:179436587;179436586;179436585 |
| N2A | 22190 | 66793;66794;66795 | chr2:178571860;178571859;178571858 | chr2:179436587;179436586;179436585 |
| N2B | 15693 | 47302;47303;47304 | chr2:178571860;178571859;178571858 | chr2:179436587;179436586;179436585 |
| Novex-1 | 15818 | 47677;47678;47679 | chr2:178571860;178571859;178571858 | chr2:179436587;179436586;179436585 |
| Novex-2 | 15885 | 47878;47879;47880 | chr2:178571860;178571859;178571858 | chr2:179436587;179436586;179436585 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1015935551  |
None | 0.004 | N | 0.152 | 0.137 | 0.212008924253 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs1015935551 |
None | 0.004 | N | 0.152 | 0.137 | 0.212008924253 | gnomAD-4.0.0 | 6.57592E-06 | None | None | None | None | N | None | 0 | 6.55566E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs1464894688 |
-0.374 | 0.939 | D | 0.269 | 0.3 | 0.344483371355 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Q/H | rs1464894688 |
-0.374 | 0.939 | D | 0.269 | 0.3 | 0.344483371355 | gnomAD-4.0.0 | 6.1588E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1967E-06 | 0 | 1.657E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2336 | likely_benign | 0.2309 | benign | -0.214 | Destabilizing | 0.543 | D | 0.34 | neutral | None | None | None | None | N |
| Q/C | 0.793 | likely_pathogenic | 0.8029 | pathogenic | 0.206 | Stabilizing | 0.996 | D | 0.273 | neutral | None | None | None | None | N |
| Q/D | 0.5656 | likely_pathogenic | 0.5755 | pathogenic | 0.01 | Stabilizing | 0.373 | N | 0.243 | neutral | None | None | None | None | N |
| Q/E | 0.075 | likely_benign | 0.0795 | benign | -0.013 | Destabilizing | 0.004 | N | 0.152 | neutral | N | 0.387890979 | None | None | N |
| Q/F | 0.8057 | likely_pathogenic | 0.8167 | pathogenic | -0.393 | Destabilizing | 0.984 | D | 0.269 | neutral | None | None | None | None | N |
| Q/G | 0.3915 | ambiguous | 0.3971 | ambiguous | -0.413 | Destabilizing | 0.742 | D | 0.33 | neutral | None | None | None | None | N |
| Q/H | 0.4235 | ambiguous | 0.4311 | ambiguous | -0.323 | Destabilizing | 0.939 | D | 0.269 | neutral | D | 0.533694262 | None | None | N |
| Q/I | 0.4188 | ambiguous | 0.4296 | ambiguous | 0.223 | Stabilizing | 0.953 | D | 0.289 | neutral | None | None | None | None | N |
| Q/K | 0.1337 | likely_benign | 0.1329 | benign | 0.036 | Stabilizing | 0.309 | N | 0.273 | neutral | N | 0.467661271 | None | None | N |
| Q/L | 0.1901 | likely_benign | 0.1987 | benign | 0.223 | Stabilizing | 0.684 | D | 0.318 | neutral | N | 0.508913248 | None | None | N |
| Q/M | 0.353 | ambiguous | 0.3551 | ambiguous | 0.451 | Stabilizing | 0.984 | D | 0.276 | neutral | None | None | None | None | N |
| Q/N | 0.4082 | ambiguous | 0.4153 | ambiguous | -0.25 | Destabilizing | 0.742 | D | 0.213 | neutral | None | None | None | None | N |
| Q/P | 0.1514 | likely_benign | 0.149 | benign | 0.106 | Stabilizing | 0.931 | D | 0.309 | neutral | N | 0.457329634 | None | None | N |
| Q/R | 0.1762 | likely_benign | 0.177 | benign | 0.176 | Stabilizing | 0.007 | N | 0.175 | neutral | N | 0.489634054 | None | None | N |
| Q/S | 0.3627 | ambiguous | 0.3643 | ambiguous | -0.248 | Destabilizing | 0.543 | D | 0.225 | neutral | None | None | None | None | N |
| Q/T | 0.2777 | likely_benign | 0.284 | benign | -0.115 | Destabilizing | 0.742 | D | 0.293 | neutral | None | None | None | None | N |
| Q/V | 0.2576 | likely_benign | 0.2661 | benign | 0.106 | Stabilizing | 0.854 | D | 0.331 | neutral | None | None | None | None | N |
| Q/W | 0.7766 | likely_pathogenic | 0.7902 | pathogenic | -0.378 | Destabilizing | 0.996 | D | 0.285 | neutral | None | None | None | None | N |
| Q/Y | 0.6366 | likely_pathogenic | 0.6621 | pathogenic | -0.123 | Destabilizing | 0.984 | D | 0.277 | 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.