Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21009 | 63250;63251;63252 | chr2:178588700;178588699;178588698 | chr2:179453427;179453426;179453425 |
| N2AB | 19368 | 58327;58328;58329 | chr2:178588700;178588699;178588698 | chr2:179453427;179453426;179453425 |
| N2A | 18441 | 55546;55547;55548 | chr2:178588700;178588699;178588698 | chr2:179453427;179453426;179453425 |
| N2B | 11944 | 36055;36056;36057 | chr2:178588700;178588699;178588698 | chr2:179453427;179453426;179453425 |
| Novex-1 | 12069 | 36430;36431;36432 | chr2:178588700;178588699;178588698 | chr2:179453427;179453426;179453425 |
| Novex-2 | 12136 | 36631;36632;36633 | chr2:178588700;178588699;178588698 | chr2:179453427;179453426;179453425 |
| 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 | rs72646851  |
0.156 | 1.0 | N | 0.689 | 0.299 | None | gnomAD-2.1.1 | 2.20094E-03 | None | None | None | None | I | None | 2.39828E-02 | 6.79656E-04 | None | 0 | 0 | None | 0 | None | 0 | 4.69E-05 | 8.43882E-04 |
| R/Q | rs72646851 |
0.156 | 1.0 | N | 0.689 | 0.299 | None | gnomAD-3.1.2 | 6.53947E-03 | None | None | None | None | I | None | 2.2679E-02 | 2.68994E-03 | 0 | 0 | 0 | None | 0 | 0 | 1.17682E-04 | 0 | 2.87356E-03 |
| R/Q | rs72646851 |
0.156 | 1.0 | N | 0.689 | 0.299 | None | 1000 genomes | 4.79233E-03 | None | None | None | None | I | None | 1.82E-02 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/Q | rs72646851 |
0.156 | 1.0 | N | 0.689 | 0.299 | None | gnomAD-4.0.0 | 1.16664E-03 | None | None | None | None | I | None | 2.23301E-02 | 1.40093E-03 | None | 0 | 0 | None | 0 | 1.65235E-04 | 4.49357E-05 | 0 | 1.12072E-03 |
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 | 0.6632 | likely_pathogenic | 0.6518 | pathogenic | 0.069 | Stabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | I |
| R/C | 0.2831 | likely_benign | 0.3024 | benign | -0.231 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| R/D | 0.8705 | likely_pathogenic | 0.8621 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| R/E | 0.69 | likely_pathogenic | 0.6598 | pathogenic | -0.1 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | I |
| R/F | 0.69 | likely_pathogenic | 0.7033 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| R/G | 0.5135 | ambiguous | 0.5209 | ambiguous | -0.102 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.493793788 | None | None | I |
| R/H | 0.1537 | likely_benign | 0.16 | benign | -0.636 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| R/I | 0.4442 | ambiguous | 0.4294 | ambiguous | 0.478 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| R/K | 0.1396 | likely_benign | 0.1543 | benign | -0.08 | Destabilizing | 0.998 | D | 0.615 | neutral | None | None | None | None | I |
| R/L | 0.4261 | ambiguous | 0.4176 | ambiguous | 0.478 | Stabilizing | 1.0 | D | 0.607 | neutral | N | 0.510899468 | None | None | I |
| R/M | 0.4936 | ambiguous | 0.4955 | ambiguous | -0.036 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| R/N | 0.7692 | likely_pathogenic | 0.779 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| R/P | 0.9259 | likely_pathogenic | 0.9153 | pathogenic | 0.361 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.467494444 | None | None | I |
| R/Q | 0.1808 | likely_benign | 0.2423 | benign | -0.038 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.490716197 | None | None | I |
| R/S | 0.7397 | likely_pathogenic | 0.7499 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| R/T | 0.5287 | ambiguous | 0.5222 | ambiguous | -0.062 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | I |
| R/V | 0.5089 | ambiguous | 0.5055 | ambiguous | 0.361 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| R/W | 0.2955 | likely_benign | 0.3105 | benign | -0.364 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| R/Y | 0.486 | ambiguous | 0.4994 | ambiguous | 0.061 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
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.