Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21928 | 66007;66008;66009 | chr2:178583021;178583020;178583019 | chr2:179447748;179447747;179447746 |
| N2AB | 20287 | 61084;61085;61086 | chr2:178583021;178583020;178583019 | chr2:179447748;179447747;179447746 |
| N2A | 19360 | 58303;58304;58305 | chr2:178583021;178583020;178583019 | chr2:179447748;179447747;179447746 |
| N2B | 12863 | 38812;38813;38814 | chr2:178583021;178583020;178583019 | chr2:179447748;179447747;179447746 |
| Novex-1 | 12988 | 39187;39188;39189 | chr2:178583021;178583020;178583019 | chr2:179447748;179447747;179447746 |
| Novex-2 | 13055 | 39388;39389;39390 | chr2:178583021;178583020;178583019 | chr2:179447748;179447747;179447746 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs769057462  |
0.263 | 1.0 | N | 0.691 | 0.299 | None | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 1.00442E-04 | 5.71E-05 | None | 0 | None | 0 | 1.8E-05 | 0 |
| R/Q | rs769057462 |
0.263 | 1.0 | N | 0.691 | 0.299 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/Q | rs769057462 |
0.263 | 1.0 | N | 0.691 | 0.299 | None | gnomAD-4.0.0 | 2.30393E-05 | None | None | None | None | N | None | 2.67917E-05 | 5.03761E-05 | None | 3.40344E-05 | 2.25002E-05 | None | 0 | 1.65563E-04 | 2.38219E-05 | 1.1148E-05 | 0 |
| R/W | rs371856109 |
-0.356 | 1.0 | N | 0.755 | 0.472 | None | gnomAD-2.1.1 | 5.78E-05 | None | None | None | None | N | None | 1.24854E-04 | 8.61E-05 | None | 0 | 0 | None | 3.32E-05 | None | 0 | 5.53E-05 | 2.84172E-04 |
| R/W | rs371856109 |
-0.356 | 1.0 | N | 0.755 | 0.472 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/W | rs371856109 |
-0.356 | 1.0 | N | 0.755 | 0.472 | None | gnomAD-4.0.0 | 6.7836E-05 | None | None | None | None | N | None | 8.03514E-05 | 8.39123E-05 | None | 0 | 0 | None | 0 | 0 | 8.07879E-05 | 2.22559E-05 | 1.60901E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.981 | likely_pathogenic | 0.9694 | pathogenic | -0.408 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| R/C | 0.8398 | likely_pathogenic | 0.744 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| R/D | 0.9943 | likely_pathogenic | 0.9931 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| R/E | 0.9552 | likely_pathogenic | 0.9418 | pathogenic | 0.054 | Stabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| R/F | 0.9931 | likely_pathogenic | 0.9886 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/G | 0.9585 | likely_pathogenic | 0.9412 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.567 | neutral | N | 0.458200556 | None | None | N |
| R/H | 0.7208 | likely_pathogenic | 0.652 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| R/I | 0.9408 | likely_pathogenic | 0.8978 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| R/K | 0.4535 | ambiguous | 0.4213 | ambiguous | -0.486 | Destabilizing | 0.998 | D | 0.516 | neutral | None | None | None | None | N |
| R/L | 0.9129 | likely_pathogenic | 0.872 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.567 | neutral | N | 0.464595884 | None | None | N |
| R/M | 0.9634 | likely_pathogenic | 0.9394 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| R/N | 0.9899 | likely_pathogenic | 0.9869 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/P | 0.9745 | likely_pathogenic | 0.9699 | pathogenic | 0.074 | Stabilizing | 1.0 | D | 0.669 | neutral | N | 0.446972915 | None | None | N |
| R/Q | 0.5813 | likely_pathogenic | 0.5131 | ambiguous | -0.195 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.497113734 | None | None | N |
| R/S | 0.9895 | likely_pathogenic | 0.9837 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| R/T | 0.9729 | likely_pathogenic | 0.9574 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| R/V | 0.9641 | likely_pathogenic | 0.9392 | pathogenic | 0.074 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| R/W | 0.8753 | likely_pathogenic | 0.8232 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.490636858 | None | None | N |
| R/Y | 0.9755 | likely_pathogenic | 0.9631 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.699 | prob.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.