Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21220 | 63883;63884;63885 | chr2:178587651;178587650;178587649 | chr2:179452378;179452377;179452376 |
| N2AB | 19579 | 58960;58961;58962 | chr2:178587651;178587650;178587649 | chr2:179452378;179452377;179452376 |
| N2A | 18652 | 56179;56180;56181 | chr2:178587651;178587650;178587649 | chr2:179452378;179452377;179452376 |
| N2B | 12155 | 36688;36689;36690 | chr2:178587651;178587650;178587649 | chr2:179452378;179452377;179452376 |
| Novex-1 | 12280 | 37063;37064;37065 | chr2:178587651;178587650;178587649 | chr2:179452378;179452377;179452376 |
| Novex-2 | 12347 | 37264;37265;37266 | chr2:178587651;178587650;178587649 | chr2:179452378;179452377;179452376 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs757154541  |
-1.31 | 1.0 | N | 0.835 | 0.52 | 0.668496244192 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3386 | likely_benign | 0.3522 | ambiguous | -0.437 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.42161955 | None | None | N |
| G/C | 0.6987 | likely_pathogenic | 0.7143 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/D | 0.9331 | likely_pathogenic | 0.9285 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/E | 0.9349 | likely_pathogenic | 0.9328 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.513433633 | None | None | N |
| G/F | 0.9709 | likely_pathogenic | 0.9745 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.9734 | likely_pathogenic | 0.9757 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/I | 0.8719 | likely_pathogenic | 0.8733 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/K | 0.9851 | likely_pathogenic | 0.9847 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/L | 0.9388 | likely_pathogenic | 0.9473 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/M | 0.9414 | likely_pathogenic | 0.9484 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/N | 0.9245 | likely_pathogenic | 0.9323 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/P | 0.9872 | likely_pathogenic | 0.9863 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/Q | 0.9627 | likely_pathogenic | 0.9635 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/R | 0.9721 | likely_pathogenic | 0.9703 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.524938706 | None | None | N |
| G/S | 0.4279 | ambiguous | 0.456 | ambiguous | -1.211 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/T | 0.7047 | likely_pathogenic | 0.7145 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/V | 0.7321 | likely_pathogenic | 0.7281 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.477008686 | None | None | N |
| G/W | 0.9498 | likely_pathogenic | 0.9501 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/Y | 0.9463 | likely_pathogenic | 0.9518 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.821 | 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.