Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16378 | 49357;49358;49359 | chr2:178614265;178614264;178614263 | chr2:179478992;179478991;179478990 |
| N2AB | 14737 | 44434;44435;44436 | chr2:178614265;178614264;178614263 | chr2:179478992;179478991;179478990 |
| N2A | 13810 | 41653;41654;41655 | chr2:178614265;178614264;178614263 | chr2:179478992;179478991;179478990 |
| N2B | 7313 | 22162;22163;22164 | chr2:178614265;178614264;178614263 | chr2:179478992;179478991;179478990 |
| Novex-1 | 7438 | 22537;22538;22539 | chr2:178614265;178614264;178614263 | chr2:179478992;179478991;179478990 |
| Novex-2 | 7505 | 22738;22739;22740 | chr2:178614265;178614264;178614263 | chr2:179478992;179478991;179478990 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs376610251  |
None | 1.0 | D | 0.703 | 0.41 | 0.441017621159 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs376610251 |
None | 1.0 | D | 0.703 | 0.41 | 0.441017621159 | gnomAD-4.0.0 | 3.72079E-06 | None | None | None | None | N | None | 0 | 1.67001E-05 | None | 0 | 0 | None | 0 | 0 | 4.23995E-06 | 0 | 0 |
| D/Y | None | None | 1.0 | D | 0.627 | 0.476 | 0.814622373605 | gnomAD-4.0.0 | 6.84615E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15969E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9214 | likely_pathogenic | 0.8929 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.575458486 | None | None | N |
| D/C | 0.9869 | likely_pathogenic | 0.9774 | pathogenic | 0.165 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| D/E | 0.9323 | likely_pathogenic | 0.8881 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.439 | neutral | D | 0.619861944 | None | None | N |
| D/F | 0.9916 | likely_pathogenic | 0.985 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| D/G | 0.9028 | likely_pathogenic | 0.8648 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.700817209 | None | None | N |
| D/H | 0.9632 | likely_pathogenic | 0.9326 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.655 | neutral | D | 0.674292603 | None | None | N |
| D/I | 0.9831 | likely_pathogenic | 0.9663 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| D/K | 0.9859 | likely_pathogenic | 0.9733 | pathogenic | 0.146 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/L | 0.9802 | likely_pathogenic | 0.9643 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| D/M | 0.9916 | likely_pathogenic | 0.9834 | pathogenic | 0.769 | Stabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| D/N | 0.3124 | likely_benign | 0.2527 | benign | -0.134 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.552962453 | None | None | N |
| D/P | 0.9931 | likely_pathogenic | 0.9879 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/Q | 0.983 | likely_pathogenic | 0.9674 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/R | 0.9867 | likely_pathogenic | 0.9758 | pathogenic | 0.049 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| D/S | 0.6668 | likely_pathogenic | 0.5869 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/T | 0.8315 | likely_pathogenic | 0.7612 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| D/V | 0.9569 | likely_pathogenic | 0.9235 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.698962755 | None | None | N |
| D/W | 0.9986 | likely_pathogenic | 0.9974 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| D/Y | 0.9474 | likely_pathogenic | 0.9056 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.627 | neutral | D | 0.747774229 | 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.