Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22404 | 67435;67436;67437 | chr2:178580077;178580076;178580075 | chr2:179444804;179444803;179444802 |
| N2AB | 20763 | 62512;62513;62514 | chr2:178580077;178580076;178580075 | chr2:179444804;179444803;179444802 |
| N2A | 19836 | 59731;59732;59733 | chr2:178580077;178580076;178580075 | chr2:179444804;179444803;179444802 |
| N2B | 13339 | 40240;40241;40242 | chr2:178580077;178580076;178580075 | chr2:179444804;179444803;179444802 |
| Novex-1 | 13464 | 40615;40616;40617 | chr2:178580077;178580076;178580075 | chr2:179444804;179444803;179444802 |
| Novex-2 | 13531 | 40816;40817;40818 | chr2:178580077;178580076;178580075 | chr2:179444804;179444803;179444802 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs369257896  |
-0.556 | 1.0 | N | 0.729 | 0.421 | None | gnomAD-2.1.1 | 4.29E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.39E-05 | 0 |
| V/M | rs369257896 |
-0.556 | 1.0 | N | 0.729 | 0.421 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| V/M | rs369257896 |
-0.556 | 1.0 | N | 0.729 | 0.421 | None | gnomAD-4.0.0 | 8.86424E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19544E-04 | 0 | 3.20359E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3617 | ambiguous | 0.3076 | benign | -1.28 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.467836839 | None | None | N |
| V/C | 0.882 | likely_pathogenic | 0.8432 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/D | 0.9432 | likely_pathogenic | 0.9057 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/E | 0.845 | likely_pathogenic | 0.7775 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.51588218 | None | None | N |
| V/F | 0.5993 | likely_pathogenic | 0.4916 | ambiguous | -0.873 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| V/G | 0.7359 | likely_pathogenic | 0.6869 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.520036463 | None | None | N |
| V/H | 0.9661 | likely_pathogenic | 0.9392 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/I | 0.105 | likely_benign | 0.0901 | benign | -0.395 | Destabilizing | 0.998 | D | 0.513 | neutral | None | None | None | None | N |
| V/K | 0.937 | likely_pathogenic | 0.904 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/L | 0.5047 | ambiguous | 0.3941 | ambiguous | -0.395 | Destabilizing | 0.997 | D | 0.564 | neutral | N | 0.521865824 | None | None | N |
| V/M | 0.4202 | ambiguous | 0.3216 | benign | -0.481 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.511896162 | None | None | N |
| V/N | 0.8706 | likely_pathogenic | 0.8081 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/P | 0.9632 | likely_pathogenic | 0.9584 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/Q | 0.8675 | likely_pathogenic | 0.817 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| V/R | 0.9089 | likely_pathogenic | 0.8819 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/S | 0.6379 | likely_pathogenic | 0.5608 | ambiguous | -1.495 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/T | 0.5525 | ambiguous | 0.4651 | ambiguous | -1.306 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| V/W | 0.989 | likely_pathogenic | 0.9813 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/Y | 0.9293 | likely_pathogenic | 0.8914 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.832 | 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.