Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2372 | 7339;7340;7341 | chr2:178774054;178774053;178774052 | chr2:179638781;179638780;179638779 |
| N2AB | 2372 | 7339;7340;7341 | chr2:178774054;178774053;178774052 | chr2:179638781;179638780;179638779 |
| N2A | 2372 | 7339;7340;7341 | chr2:178774054;178774053;178774052 | chr2:179638781;179638780;179638779 |
| N2B | 2326 | 7201;7202;7203 | chr2:178774054;178774053;178774052 | chr2:179638781;179638780;179638779 |
| Novex-1 | 2326 | 7201;7202;7203 | chr2:178774054;178774053;178774052 | chr2:179638781;179638780;179638779 |
| Novex-2 | 2326 | 7201;7202;7203 | chr2:178774054;178774053;178774052 | chr2:179638781;179638780;179638779 |
| Novex-3 | 2372 | 7339;7340;7341 | chr2:178774054;178774053;178774052 | chr2:179638781;179638780;179638779 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | 1.0 | N | 0.669 | 0.51 | 0.699307346123 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| I/V | rs117777236  |
None | 0.993 | N | 0.337 | 0.302 | None | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.773E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.6863 | likely_pathogenic | 0.6697 | pathogenic | -1.261 | Destabilizing | 0.999 | D | 0.473 | neutral | None | None | None | None | N |
| I/C | 0.9491 | likely_pathogenic | 0.9496 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| I/D | 0.9247 | likely_pathogenic | 0.9244 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| I/E | 0.9153 | likely_pathogenic | 0.9167 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| I/F | 0.5325 | ambiguous | 0.5283 | ambiguous | -0.972 | Destabilizing | 1.0 | D | 0.647 | neutral | D | 0.540095777 | None | None | N |
| I/G | 0.9365 | likely_pathogenic | 0.9348 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| I/H | 0.9155 | likely_pathogenic | 0.915 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| I/K | 0.8791 | likely_pathogenic | 0.8759 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| I/L | 0.3712 | ambiguous | 0.3668 | ambiguous | -0.639 | Destabilizing | 0.993 | D | 0.338 | neutral | N | 0.496657608 | None | None | N |
| I/M | 0.2639 | likely_benign | 0.2573 | benign | -0.481 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.5079464 | None | None | N |
| I/N | 0.7018 | likely_pathogenic | 0.7013 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.490246973 | None | None | N |
| I/P | 0.9316 | likely_pathogenic | 0.9319 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| I/Q | 0.9072 | likely_pathogenic | 0.9075 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| I/R | 0.7996 | likely_pathogenic | 0.7987 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| I/S | 0.6547 | likely_pathogenic | 0.6526 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.471917785 | None | None | N |
| I/T | 0.4431 | ambiguous | 0.4227 | ambiguous | -1.05 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.456339155 | None | None | N |
| I/V | 0.1722 | likely_benign | 0.1667 | benign | -0.813 | Destabilizing | 0.993 | D | 0.337 | neutral | N | 0.506081016 | None | None | N |
| I/W | 0.9481 | likely_pathogenic | 0.95 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/Y | 0.8632 | likely_pathogenic | 0.8664 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.734 | 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.