Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35200 | 105823;105824;105825 | chr2:178531017;178531016;178531015 | chr2:179395744;179395743;179395742 |
| N2AB | 33559 | 100900;100901;100902 | chr2:178531017;178531016;178531015 | chr2:179395744;179395743;179395742 |
| N2A | 32632 | 98119;98120;98121 | chr2:178531017;178531016;178531015 | chr2:179395744;179395743;179395742 |
| N2B | 26135 | 78628;78629;78630 | chr2:178531017;178531016;178531015 | chr2:179395744;179395743;179395742 |
| Novex-1 | 26260 | 79003;79004;79005 | chr2:178531017;178531016;178531015 | chr2:179395744;179395743;179395742 |
| Novex-2 | 26327 | 79204;79205;79206 | chr2:178531017;178531016;178531015 | chr2:179395744;179395743;179395742 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.009 | N | 0.511 | 0.089 | 0.154104182512 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/T | None | None | None | N | 0.191 | 0.062 | 0.0611884634855 | gnomAD-4.0.0 | 1.59094E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85747E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0817 | likely_benign | 0.0781 | benign | -0.715 | Destabilizing | 0.003 | N | 0.393 | neutral | None | None | None | None | N |
| S/C | 0.1199 | likely_benign | 0.1246 | benign | -0.135 | Destabilizing | 0.14 | N | 0.686 | prob.neutral | N | 0.452920637 | None | None | N |
| S/D | 0.5663 | likely_pathogenic | 0.5777 | pathogenic | -1.18 | Destabilizing | 0.029 | N | 0.575 | neutral | None | None | None | None | N |
| S/E | 0.5616 | ambiguous | 0.5551 | ambiguous | -0.907 | Destabilizing | 0.029 | N | 0.52 | neutral | None | None | None | None | N |
| S/F | 0.1887 | likely_benign | 0.1942 | benign | -0.534 | Destabilizing | 0.177 | N | 0.727 | prob.delet. | None | None | None | None | N |
| S/G | 0.1524 | likely_benign | 0.1499 | benign | -1.151 | Destabilizing | 0.009 | N | 0.511 | neutral | N | 0.491457198 | None | None | N |
| S/H | 0.2543 | likely_benign | 0.2403 | benign | -1.251 | Destabilizing | 0.396 | N | 0.685 | prob.neutral | None | None | None | None | N |
| S/I | 0.1522 | likely_benign | 0.1519 | benign | 0.431 | Stabilizing | 0.005 | N | 0.665 | neutral | N | 0.448762427 | None | None | N |
| S/K | 0.488 | ambiguous | 0.4495 | ambiguous | 0.612 | Stabilizing | 0.029 | N | 0.508 | neutral | None | None | None | None | N |
| S/L | 0.1014 | likely_benign | 0.0998 | benign | 0.431 | Stabilizing | 0.003 | N | 0.649 | neutral | None | None | None | None | N |
| S/M | 0.1941 | likely_benign | 0.1878 | benign | 0.076 | Stabilizing | 0.001 | N | 0.564 | neutral | None | None | None | None | N |
| S/N | 0.2107 | likely_benign | 0.2 | benign | -0.303 | Destabilizing | 0.022 | N | 0.557 | neutral | N | 0.49334271 | None | None | N |
| S/P | 0.9455 | likely_pathogenic | 0.9446 | pathogenic | 0.081 | Stabilizing | 0.058 | N | 0.706 | prob.neutral | None | None | None | None | N |
| S/Q | 0.4326 | ambiguous | 0.4013 | ambiguous | 0.079 | Stabilizing | 0.058 | N | 0.613 | neutral | None | None | None | None | N |
| S/R | 0.3244 | likely_benign | 0.305 | benign | -0.019 | Destabilizing | 0.055 | N | 0.713 | prob.delet. | N | 0.466020036 | None | None | N |
| S/T | 0.0642 | likely_benign | 0.0641 | benign | 0.072 | Stabilizing | None | N | 0.191 | neutral | N | 0.361351299 | None | None | N |
| S/V | 0.1686 | likely_benign | 0.1654 | benign | 0.081 | Stabilizing | None | N | 0.512 | neutral | None | None | None | None | N |
| S/W | 0.2784 | likely_benign | 0.2986 | benign | -0.8 | Destabilizing | 0.712 | D | 0.733 | prob.delet. | None | None | None | None | N |
| S/Y | 0.1818 | likely_benign | 0.18 | benign | -0.276 | Destabilizing | 0.177 | N | 0.71 | prob.delet. | 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.