Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24882 | 74869;74870;74871 | chr2:178571488;178571487;178571486 | chr2:179436215;179436214;179436213 |
| N2AB | 23241 | 69946;69947;69948 | chr2:178571488;178571487;178571486 | chr2:179436215;179436214;179436213 |
| N2A | 22314 | 67165;67166;67167 | chr2:178571488;178571487;178571486 | chr2:179436215;179436214;179436213 |
| N2B | 15817 | 47674;47675;47676 | chr2:178571488;178571487;178571486 | chr2:179436215;179436214;179436213 |
| Novex-1 | 15942 | 48049;48050;48051 | chr2:178571488;178571487;178571486 | chr2:179436215;179436214;179436213 |
| Novex-2 | 16009 | 48250;48251;48252 | chr2:178571488;178571487;178571486 | chr2:179436215;179436214;179436213 |
| 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/G | rs1381964722  |
None | 1.0 | D | 0.728 | 0.611 | 0.727502437607 | gnomAD-4.0.0 | 3.422E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49802E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9785 | likely_pathogenic | 0.9763 | pathogenic | -2.07 | Highly Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| R/C | 0.6451 | likely_pathogenic | 0.6367 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| R/D | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/E | 0.9764 | likely_pathogenic | 0.9767 | pathogenic | -1.174 | Destabilizing | 0.999 | D | 0.658 | neutral | None | None | None | None | N |
| R/F | 0.9906 | likely_pathogenic | 0.9898 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| R/G | 0.9753 | likely_pathogenic | 0.9721 | pathogenic | -2.406 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.544109108 | None | None | N |
| R/H | 0.5597 | ambiguous | 0.5497 | ambiguous | -2.048 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/I | 0.9476 | likely_pathogenic | 0.9443 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.526004853 | None | None | N |
| R/K | 0.4978 | ambiguous | 0.459 | ambiguous | -1.3 | Destabilizing | 0.997 | D | 0.651 | neutral | N | 0.498364264 | None | None | N |
| R/L | 0.9237 | likely_pathogenic | 0.9206 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| R/M | 0.957 | likely_pathogenic | 0.9516 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| R/N | 0.9909 | likely_pathogenic | 0.9909 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| R/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| R/Q | 0.4916 | ambiguous | 0.4777 | ambiguous | -1.358 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| R/S | 0.9881 | likely_pathogenic | 0.9868 | pathogenic | -2.376 | Highly Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.520076143 | None | None | N |
| R/T | 0.9782 | likely_pathogenic | 0.976 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.502732357 | None | None | N |
| R/V | 0.9617 | likely_pathogenic | 0.9592 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/W | 0.8809 | likely_pathogenic | 0.8769 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| R/Y | 0.9633 | likely_pathogenic | 0.9628 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.831 | 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.