Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 44 | 355;356;357 | chr2:178802303;178802302;178802301 | chr2:179667030;179667029;179667028 |
| N2AB | 44 | 355;356;357 | chr2:178802303;178802302;178802301 | chr2:179667030;179667029;179667028 |
| N2A | 44 | 355;356;357 | chr2:178802303;178802302;178802301 | chr2:179667030;179667029;179667028 |
| N2B | 44 | 355;356;357 | chr2:178802303;178802302;178802301 | chr2:179667030;179667029;179667028 |
| Novex-1 | 44 | 355;356;357 | chr2:178802303;178802302;178802301 | chr2:179667030;179667029;179667028 |
| Novex-2 | 44 | 355;356;357 | chr2:178802303;178802302;178802301 | chr2:179667030;179667029;179667028 |
| Novex-3 | 44 | 355;356;357 | chr2:178802303;178802302;178802301 | chr2:179667030;179667029;179667028 |
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/L | rs867308852  |
0.433 | 0.99 | N | 0.472 | 0.591 | 0.65458738856 | gnomAD-2.1.1 | 2.79E-05 | None | None | None | -0.026(TCAP) | N | None | 0 | 0 | None | 0 | 3.81679E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/L | rs867308852 |
0.433 | 0.99 | N | 0.472 | 0.591 | 0.65458738856 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.026(TCAP) | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/L | rs867308852 |
0.433 | 0.99 | N | 0.472 | 0.591 | 0.65458738856 | gnomAD-4.0.0 | 5.57617E-06 | None | None | None | -0.026(TCAP) | N | None | 0 | 0 | None | 0 | 1.78301E-04 | None | 0 | 0 | 0 | 0 | 1.60031E-05 |
| Q/R | rs867308852 |
None | 0.985 | N | 0.481 | 0.438 | 0.283371740733 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.404(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs867308852 |
None | 0.985 | N | 0.481 | 0.438 | 0.283371740733 | gnomAD-4.0.0 | 2.4783E-06 | None | None | None | -0.404(TCAP) | N | None | 1.33479E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54234E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3156 | likely_benign | 0.3521 | ambiguous | -0.206 | Destabilizing | 0.997 | D | 0.483 | neutral | None | None | None | -0.094(TCAP) | N |
| Q/C | 0.9101 | likely_pathogenic | 0.9508 | pathogenic | 0.106 | Stabilizing | 0.999 | D | 0.631 | neutral | None | None | None | -0.024(TCAP) | N |
| Q/D | 0.4983 | ambiguous | 0.5898 | pathogenic | 0.079 | Stabilizing | 0.99 | D | 0.487 | neutral | None | None | None | -0.03(TCAP) | N |
| Q/E | 0.0903 | likely_benign | 0.1081 | benign | 0.065 | Stabilizing | 0.977 | D | 0.388 | neutral | N | 0.491978594 | None | -0.088(TCAP) | N |
| Q/F | 0.8408 | likely_pathogenic | 0.8958 | pathogenic | -0.356 | Destabilizing | 0.998 | D | 0.647 | neutral | None | None | None | -0.169(TCAP) | N |
| Q/G | 0.4636 | ambiguous | 0.5386 | ambiguous | -0.409 | Destabilizing | 0.997 | D | 0.472 | neutral | None | None | None | -0.124(TCAP) | N |
| Q/H | 0.3265 | likely_benign | 0.4216 | ambiguous | -0.239 | Destabilizing | 0.997 | D | 0.552 | neutral | N | 0.507214285 | None | 0.337(TCAP) | N |
| Q/I | 0.5166 | ambiguous | 0.5948 | pathogenic | 0.244 | Stabilizing | 0.998 | D | 0.655 | neutral | None | None | None | -0.026(TCAP) | N |
| Q/K | 0.1047 | likely_benign | 0.1244 | benign | 0.014 | Stabilizing | 0.99 | D | 0.47 | neutral | N | 0.448951255 | None | -0.407(TCAP) | N |
| Q/L | 0.2207 | likely_benign | 0.1873 | benign | 0.244 | Stabilizing | 0.99 | D | 0.472 | neutral | N | 0.512283893 | None | -0.026(TCAP) | N |
| Q/M | 0.4823 | ambiguous | 0.5311 | ambiguous | 0.364 | Stabilizing | 0.998 | D | 0.552 | neutral | None | None | None | 0.582(TCAP) | N |
| Q/N | 0.3612 | ambiguous | 0.4003 | ambiguous | -0.354 | Destabilizing | 0.997 | D | 0.489 | neutral | None | None | None | -0.824(TCAP) | N |
| Q/P | 0.7612 | likely_pathogenic | 0.8617 | pathogenic | 0.123 | Stabilizing | 0.996 | D | 0.581 | neutral | D | 0.695423188 | None | -0.044(TCAP) | N |
| Q/R | 0.1366 | likely_benign | 0.1767 | benign | 0.162 | Stabilizing | 0.985 | D | 0.481 | neutral | N | 0.509862529 | None | -0.404(TCAP) | N |
| Q/S | 0.3672 | ambiguous | 0.3943 | ambiguous | -0.342 | Destabilizing | 0.997 | D | 0.469 | neutral | None | None | None | -0.692(TCAP) | N |
| Q/T | 0.3032 | likely_benign | 0.3422 | ambiguous | -0.196 | Destabilizing | 0.978 | D | 0.521 | neutral | None | None | None | -0.649(TCAP) | N |
| Q/V | 0.3482 | ambiguous | 0.3962 | ambiguous | 0.123 | Stabilizing | 0.993 | D | 0.511 | neutral | None | None | None | -0.044(TCAP) | N |
| Q/W | 0.8032 | likely_pathogenic | 0.8946 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | -0.194(TCAP) | N |
| Q/Y | 0.6928 | likely_pathogenic | 0.7899 | pathogenic | -0.091 | Destabilizing | 0.998 | D | 0.58 | neutral | None | None | None | -0.044(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.