Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7920 | 23983;23984;23985 | chr2:178719734;178719733;178719732 | chr2:179584461;179584460;179584459 |
| N2AB | 7603 | 23032;23033;23034 | chr2:178719734;178719733;178719732 | chr2:179584461;179584460;179584459 |
| N2A | 6676 | 20251;20252;20253 | chr2:178719734;178719733;178719732 | chr2:179584461;179584460;179584459 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 0.055 | N | 0.657 | 0.291 | 0.28492961333 | gnomAD-4.0.0 | 1.36851E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79907E-06 | 0 | 0 |
| A/T | rs774246101  |
-0.55 | None | N | 0.283 | 0.095 | 0.110078149338 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/T | rs774246101 |
-0.55 | None | N | 0.283 | 0.095 | 0.110078149338 | gnomAD-4.0.0 | 1.59147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85884E-06 | 0 | 0 |
| A/V | None | None | None | N | 0.281 | 0.097 | 0.101711395817 | gnomAD-4.0.0 | 6.84257E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99533E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.421 | ambiguous | 0.4217 | ambiguous | -0.527 | Destabilizing | 0.356 | N | 0.602 | neutral | None | None | None | None | N |
| A/D | 0.6744 | likely_pathogenic | 0.6562 | pathogenic | -1.435 | Destabilizing | 0.055 | N | 0.657 | neutral | N | 0.490251913 | None | None | N |
| A/E | 0.5177 | ambiguous | 0.498 | ambiguous | -1.309 | Destabilizing | 0.072 | N | 0.596 | neutral | None | None | None | None | N |
| A/F | 0.4485 | ambiguous | 0.4204 | ambiguous | -0.67 | Destabilizing | 0.214 | N | 0.734 | prob.delet. | None | None | None | None | N |
| A/G | 0.2183 | likely_benign | 0.2127 | benign | -1.223 | Destabilizing | 0.024 | N | 0.502 | neutral | N | 0.51872481 | None | None | N |
| A/H | 0.6707 | likely_pathogenic | 0.6549 | pathogenic | -1.427 | Destabilizing | 0.864 | D | 0.759 | deleterious | None | None | None | None | N |
| A/I | 0.224 | likely_benign | 0.2445 | benign | 0.157 | Stabilizing | 0.006 | N | 0.557 | neutral | None | None | None | None | N |
| A/K | 0.6151 | likely_pathogenic | 0.6012 | pathogenic | -0.902 | Destabilizing | 0.072 | N | 0.595 | neutral | None | None | None | None | N |
| A/L | 0.2112 | likely_benign | 0.2052 | benign | 0.157 | Stabilizing | 0.016 | N | 0.525 | neutral | None | None | None | None | N |
| A/M | 0.2263 | likely_benign | 0.2275 | benign | 0.086 | Stabilizing | 0.214 | N | 0.692 | prob.neutral | None | None | None | None | N |
| A/N | 0.4872 | ambiguous | 0.4584 | ambiguous | -0.907 | Destabilizing | 0.214 | N | 0.713 | prob.delet. | None | None | None | None | N |
| A/P | 0.2414 | likely_benign | 0.2214 | benign | -0.131 | Destabilizing | None | N | 0.451 | neutral | N | 0.48128393 | None | None | N |
| A/Q | 0.5364 | ambiguous | 0.5175 | ambiguous | -0.851 | Destabilizing | 0.356 | N | 0.677 | prob.neutral | None | None | None | None | N |
| A/R | 0.5466 | ambiguous | 0.5241 | ambiguous | -0.86 | Destabilizing | 0.214 | N | 0.684 | prob.neutral | None | None | None | None | N |
| A/S | 0.1265 | likely_benign | 0.1234 | benign | -1.315 | Destabilizing | 0.012 | N | 0.538 | neutral | N | 0.510470686 | None | None | N |
| A/T | 0.0737 | likely_benign | 0.0711 | benign | -1.068 | Destabilizing | None | N | 0.283 | neutral | N | 0.43945595 | None | None | N |
| A/V | 0.1027 | likely_benign | 0.1146 | benign | -0.131 | Destabilizing | None | N | 0.281 | neutral | N | 0.346953141 | None | None | N |
| A/W | 0.7868 | likely_pathogenic | 0.7609 | pathogenic | -1.252 | Destabilizing | 0.864 | D | 0.773 | deleterious | None | None | None | None | N |
| A/Y | 0.5821 | likely_pathogenic | 0.5585 | ambiguous | -0.683 | Destabilizing | 0.356 | N | 0.747 | deleterious | 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.