Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28388 | 85387;85388;85389 | chr2:178560970;178560969;178560968 | chr2:179425697;179425696;179425695 |
| N2AB | 26747 | 80464;80465;80466 | chr2:178560970;178560969;178560968 | chr2:179425697;179425696;179425695 |
| N2A | 25820 | 77683;77684;77685 | chr2:178560970;178560969;178560968 | chr2:179425697;179425696;179425695 |
| N2B | 19323 | 58192;58193;58194 | chr2:178560970;178560969;178560968 | chr2:179425697;179425696;179425695 |
| Novex-1 | 19448 | 58567;58568;58569 | chr2:178560970;178560969;178560968 | chr2:179425697;179425696;179425695 |
| Novex-2 | 19515 | 58768;58769;58770 | chr2:178560970;178560969;178560968 | chr2:179425697;179425696;179425695 |
| 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/E | rs1425261551  |
-0.244 | 0.497 | N | 0.733 | 0.399 | 0.592282861509 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/E | rs1425261551 |
-0.244 | 0.497 | N | 0.733 | 0.399 | 0.592282861509 | gnomAD-4.0.0 | 3.1825E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71618E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1433 | likely_benign | 0.1546 | benign | -0.697 | Destabilizing | 0.055 | N | 0.493 | neutral | N | 0.497752105 | None | None | I |
| V/C | 0.6386 | likely_pathogenic | 0.6809 | pathogenic | -0.698 | Destabilizing | 0.968 | D | 0.648 | neutral | None | None | None | None | I |
| V/D | 0.2375 | likely_benign | 0.2653 | benign | -0.52 | Destabilizing | 0.567 | D | 0.745 | deleterious | None | None | None | None | I |
| V/E | 0.2042 | likely_benign | 0.2221 | benign | -0.606 | Destabilizing | 0.497 | N | 0.733 | prob.delet. | N | 0.457422848 | None | None | I |
| V/F | 0.1514 | likely_benign | 0.1633 | benign | -0.745 | Destabilizing | 0.567 | D | 0.669 | neutral | None | None | None | None | I |
| V/G | 0.1824 | likely_benign | 0.1948 | benign | -0.878 | Destabilizing | 0.497 | N | 0.692 | prob.neutral | N | 0.483401832 | None | None | I |
| V/H | 0.4198 | ambiguous | 0.4633 | ambiguous | -0.395 | Destabilizing | 0.968 | D | 0.748 | deleterious | None | None | None | None | I |
| V/I | 0.0727 | likely_benign | 0.0733 | benign | -0.353 | Destabilizing | 0.001 | N | 0.185 | neutral | D | 0.524303988 | None | None | I |
| V/K | 0.2553 | likely_benign | 0.2866 | benign | -0.697 | Destabilizing | 0.567 | D | 0.729 | prob.delet. | None | None | None | None | I |
| V/L | 0.1193 | likely_benign | 0.1245 | benign | -0.353 | Destabilizing | 0.001 | N | 0.249 | neutral | N | 0.483401832 | None | None | I |
| V/M | 0.1073 | likely_benign | 0.1109 | benign | -0.401 | Destabilizing | 0.567 | D | 0.561 | neutral | None | None | None | None | I |
| V/N | 0.1646 | likely_benign | 0.1806 | benign | -0.456 | Destabilizing | 0.567 | D | 0.747 | deleterious | None | None | None | None | I |
| V/P | 0.7556 | likely_pathogenic | 0.7696 | pathogenic | -0.432 | Destabilizing | 0.726 | D | 0.738 | prob.delet. | None | None | None | None | I |
| V/Q | 0.2378 | likely_benign | 0.2612 | benign | -0.676 | Destabilizing | 0.726 | D | 0.745 | deleterious | None | None | None | None | I |
| V/R | 0.2443 | likely_benign | 0.2712 | benign | -0.149 | Destabilizing | 0.567 | D | 0.749 | deleterious | None | None | None | None | I |
| V/S | 0.143 | likely_benign | 0.1599 | benign | -0.837 | Destabilizing | 0.396 | N | 0.661 | neutral | None | None | None | None | I |
| V/T | 0.1303 | likely_benign | 0.1446 | benign | -0.819 | Destabilizing | 0.003 | N | 0.317 | neutral | None | None | None | None | I |
| V/W | 0.7667 | likely_pathogenic | 0.7951 | pathogenic | -0.85 | Destabilizing | 0.968 | D | 0.751 | deleterious | None | None | None | None | I |
| V/Y | 0.4347 | ambiguous | 0.4853 | ambiguous | -0.563 | Destabilizing | 0.726 | D | 0.665 | neutral | None | None | None | None | I |
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.