Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30018 | 90277;90278;90279 | chr2:178552848;178552847;178552846 | chr2:179417575;179417574;179417573 |
| N2AB | 28377 | 85354;85355;85356 | chr2:178552848;178552847;178552846 | chr2:179417575;179417574;179417573 |
| N2A | 27450 | 82573;82574;82575 | chr2:178552848;178552847;178552846 | chr2:179417575;179417574;179417573 |
| N2B | 20953 | 63082;63083;63084 | chr2:178552848;178552847;178552846 | chr2:179417575;179417574;179417573 |
| Novex-1 | 21078 | 63457;63458;63459 | chr2:178552848;178552847;178552846 | chr2:179417575;179417574;179417573 |
| Novex-2 | 21145 | 63658;63659;63660 | chr2:178552848;178552847;178552846 | chr2:179417575;179417574;179417573 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 1.0 | D | 0.704 | 0.397 | 0.692330729506 | gnomAD-4.0.0 | 6.84209E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99444E-07 | 0 | 0 |
| P/L | None | None | 0.997 | D | 0.684 | 0.411 | 0.7666748136 | gnomAD-4.0.0 | 6.84209E-07 | None | None | None | None | I | None | 2.98686E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs772408269  |
-0.317 | 0.998 | N | 0.695 | 0.372 | 0.628968807243 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| P/R | rs772408269 |
-0.317 | 0.998 | N | 0.695 | 0.372 | 0.628968807243 | gnomAD-4.0.0 | 4.78946E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29611E-06 | 0 | 0 |
| P/S | rs775796355 |
None | 0.978 | N | 0.573 | 0.328 | 0.31411915649 | gnomAD-4.0.0 | 1.36841E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.8735E-05 | 0 | 8.99442E-07 | 0 | 0 |
| P/T | rs775796355 |
-1.044 | 0.733 | D | 0.437 | 0.387 | 0.437741185291 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| P/T | rs775796355 |
-1.044 | 0.733 | D | 0.437 | 0.387 | 0.437741185291 | gnomAD-4.0.0 | 4.10524E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59777E-06 | 2.31873E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1005 | likely_benign | 0.0852 | benign | -1.384 | Destabilizing | 0.989 | D | 0.537 | neutral | N | 0.497142361 | None | None | I |
| P/C | 0.7083 | likely_pathogenic | 0.6025 | pathogenic | -0.776 | Destabilizing | 0.661 | D | 0.624 | neutral | None | None | None | None | I |
| P/D | 0.8854 | likely_pathogenic | 0.8423 | pathogenic | -1.318 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | I |
| P/E | 0.7611 | likely_pathogenic | 0.7034 | pathogenic | -1.397 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | I |
| P/F | 0.6871 | likely_pathogenic | 0.592 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| P/G | 0.4358 | ambiguous | 0.362 | ambiguous | -1.61 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | I |
| P/H | 0.5268 | ambiguous | 0.4518 | ambiguous | -1.079 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | D | 0.543772578 | None | None | I |
| P/I | 0.6163 | likely_pathogenic | 0.5348 | ambiguous | -0.89 | Destabilizing | 0.998 | D | 0.723 | prob.delet. | None | None | None | None | I |
| P/K | 0.7873 | likely_pathogenic | 0.7298 | pathogenic | -1.078 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | I |
| P/L | 0.376 | ambiguous | 0.3049 | benign | -0.89 | Destabilizing | 0.997 | D | 0.684 | prob.neutral | D | 0.529881377 | None | None | I |
| P/M | 0.6228 | likely_pathogenic | 0.5406 | ambiguous | -0.552 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| P/N | 0.7529 | likely_pathogenic | 0.6704 | pathogenic | -0.728 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | I |
| P/Q | 0.5334 | ambiguous | 0.4522 | ambiguous | -1.042 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| P/R | 0.6346 | likely_pathogenic | 0.5671 | pathogenic | -0.399 | Destabilizing | 0.998 | D | 0.695 | prob.neutral | N | 0.516260574 | None | None | I |
| P/S | 0.2683 | likely_benign | 0.2115 | benign | -1.134 | Destabilizing | 0.978 | D | 0.573 | neutral | N | 0.50801814 | None | None | I |
| P/T | 0.2958 | likely_benign | 0.2388 | benign | -1.122 | Destabilizing | 0.733 | D | 0.437 | neutral | D | 0.543012109 | None | None | I |
| P/V | 0.456 | ambiguous | 0.3784 | ambiguous | -1.021 | Destabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | I |
| P/W | 0.8706 | likely_pathogenic | 0.8178 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| P/Y | 0.684 | likely_pathogenic | 0.5992 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.755 | deleterious | 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.