Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24937 | 75034;75035;75036 | chr2:178571323;178571322;178571321 | chr2:179436050;179436049;179436048 |
| N2AB | 23296 | 70111;70112;70113 | chr2:178571323;178571322;178571321 | chr2:179436050;179436049;179436048 |
| N2A | 22369 | 67330;67331;67332 | chr2:178571323;178571322;178571321 | chr2:179436050;179436049;179436048 |
| N2B | 15872 | 47839;47840;47841 | chr2:178571323;178571322;178571321 | chr2:179436050;179436049;179436048 |
| Novex-1 | 15997 | 48214;48215;48216 | chr2:178571323;178571322;178571321 | chr2:179436050;179436049;179436048 |
| Novex-2 | 16064 | 48415;48416;48417 | chr2:178571323;178571322;178571321 | chr2:179436050;179436049;179436048 |
| 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/R | None | None | 1.0 | D | 0.792 | 0.56 | 0.708705863831 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7872 | likely_pathogenic | 0.7959 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.513174653 | None | None | I |
| G/C | 0.8482 | likely_pathogenic | 0.8388 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/D | 0.8482 | likely_pathogenic | 0.8592 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/E | 0.9127 | likely_pathogenic | 0.9138 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.525291427 | None | None | I |
| G/F | 0.9762 | likely_pathogenic | 0.9744 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/H | 0.9441 | likely_pathogenic | 0.9427 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/I | 0.97 | likely_pathogenic | 0.9682 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.9525 | likely_pathogenic | 0.9516 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/L | 0.9633 | likely_pathogenic | 0.961 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/M | 0.9709 | likely_pathogenic | 0.972 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/N | 0.826 | likely_pathogenic | 0.8397 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| G/P | 0.9957 | likely_pathogenic | 0.9942 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/Q | 0.9073 | likely_pathogenic | 0.9071 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/R | 0.9092 | likely_pathogenic | 0.902 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.523734491 | None | None | I |
| G/S | 0.5419 | ambiguous | 0.5475 | ambiguous | -0.4 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| G/T | 0.9001 | likely_pathogenic | 0.8953 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/V | 0.9539 | likely_pathogenic | 0.9499 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.550739516 | None | None | I |
| G/W | 0.9684 | likely_pathogenic | 0.9633 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/Y | 0.9521 | likely_pathogenic | 0.9506 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.771 | deleterious | 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.