Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3402 | 10429;10430;10431 | chr2:178759083;178759082;178759081 | chr2:179623810;179623809;179623808 |
| N2AB | 3402 | 10429;10430;10431 | chr2:178759083;178759082;178759081 | chr2:179623810;179623809;179623808 |
| N2A | 3402 | 10429;10430;10431 | chr2:178759083;178759082;178759081 | chr2:179623810;179623809;179623808 |
| N2B | 3356 | 10291;10292;10293 | chr2:178759083;178759082;178759081 | chr2:179623810;179623809;179623808 |
| Novex-1 | 3356 | 10291;10292;10293 | chr2:178759083;178759082;178759081 | chr2:179623810;179623809;179623808 |
| Novex-2 | 3356 | 10291;10292;10293 | chr2:178759083;178759082;178759081 | chr2:179623810;179623809;179623808 |
| Novex-3 | 3402 | 10429;10430;10431 | chr2:178759083;178759082;178759081 | chr2:179623810;179623809;179623808 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs766262957  |
-1.001 | 0.999 | N | 0.571 | 0.566 | 0.492611691308 | gnomAD-2.1.1 | 2.48E-05 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.11E-05 | 1.38889E-04 |
| E/K | rs766262957 |
-1.001 | 0.999 | N | 0.571 | 0.566 | 0.492611691308 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| E/K | rs766262957 |
-1.001 | 0.999 | N | 0.571 | 0.566 | 0.492611691308 | gnomAD-4.0.0 | 1.85887E-05 | None | None | None | None | N | None | 5.34017E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.11874E-05 | 1.09801E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3413 | ambiguous | 0.3648 | ambiguous | -0.812 | Destabilizing | 0.999 | D | 0.643 | neutral | D | 0.552620472 | None | None | N |
| E/C | 0.953 | likely_pathogenic | 0.9462 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/D | 0.3781 | ambiguous | 0.389 | ambiguous | -1.492 | Destabilizing | 0.999 | D | 0.51 | neutral | N | 0.510395549 | None | None | N |
| E/F | 0.8935 | likely_pathogenic | 0.8872 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| E/G | 0.5394 | ambiguous | 0.5855 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.64437377 | None | None | N |
| E/H | 0.6793 | likely_pathogenic | 0.6845 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| E/I | 0.5506 | ambiguous | 0.528 | ambiguous | 0.1 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| E/K | 0.447 | ambiguous | 0.474 | ambiguous | -0.835 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.510499527 | None | None | N |
| E/L | 0.6322 | likely_pathogenic | 0.6224 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| E/M | 0.6641 | likely_pathogenic | 0.6463 | pathogenic | 0.568 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/N | 0.6009 | likely_pathogenic | 0.6248 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/P | 0.995 | likely_pathogenic | 0.996 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| E/Q | 0.2257 | likely_benign | 0.2333 | benign | -0.979 | Destabilizing | 1.0 | D | 0.605 | neutral | N | 0.511490213 | None | None | N |
| E/R | 0.553 | ambiguous | 0.5665 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| E/S | 0.4472 | ambiguous | 0.4839 | ambiguous | -1.503 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| E/T | 0.4265 | ambiguous | 0.471 | ambiguous | -1.213 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| E/V | 0.3399 | likely_benign | 0.3292 | benign | -0.183 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.484289497 | None | None | N |
| E/W | 0.9613 | likely_pathogenic | 0.9568 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/Y | 0.8412 | likely_pathogenic | 0.833 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.779 | 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.