Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3068 | 9427;9428;9429 | chr2:178768117;178768116;178768115 | chr2:179632844;179632843;179632842 |
| N2AB | 3068 | 9427;9428;9429 | chr2:178768117;178768116;178768115 | chr2:179632844;179632843;179632842 |
| N2A | 3068 | 9427;9428;9429 | chr2:178768117;178768116;178768115 | chr2:179632844;179632843;179632842 |
| N2B | 3022 | 9289;9290;9291 | chr2:178768117;178768116;178768115 | chr2:179632844;179632843;179632842 |
| Novex-1 | 3022 | 9289;9290;9291 | chr2:178768117;178768116;178768115 | chr2:179632844;179632843;179632842 |
| Novex-2 | 3022 | 9289;9290;9291 | chr2:178768117;178768116;178768115 | chr2:179632844;179632843;179632842 |
| Novex-3 | 3068 | 9427;9428;9429 | chr2:178768117;178768116;178768115 | chr2:179632844;179632843;179632842 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs772683836  |
0.002 | 1.0 | N | 0.737 | 0.291 | 0.225902525712 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/N | rs772683836 |
0.002 | 1.0 | N | 0.737 | 0.291 | 0.225902525712 | gnomAD-4.0.0 | 6.84102E-07 | None | None | None | None | N | None | 0 | 2.23664E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.81 | likely_pathogenic | 0.8084 | pathogenic | -0.272 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| K/C | 0.9336 | likely_pathogenic | 0.9421 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/D | 0.9321 | likely_pathogenic | 0.9304 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| K/E | 0.629 | likely_pathogenic | 0.622 | pathogenic | 0.2 | Stabilizing | 0.999 | D | 0.661 | neutral | N | 0.476720971 | None | None | N |
| K/F | 0.9683 | likely_pathogenic | 0.973 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| K/G | 0.9237 | likely_pathogenic | 0.9227 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| K/H | 0.5231 | ambiguous | 0.5391 | ambiguous | -0.609 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| K/I | 0.7806 | likely_pathogenic | 0.8112 | pathogenic | 0.401 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/L | 0.7706 | likely_pathogenic | 0.779 | pathogenic | 0.401 | Stabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| K/M | 0.6486 | likely_pathogenic | 0.6618 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.511740596 | None | None | N |
| K/N | 0.8234 | likely_pathogenic | 0.8262 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.50941196 | None | None | N |
| K/P | 0.9595 | likely_pathogenic | 0.9526 | pathogenic | 0.205 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/Q | 0.3516 | ambiguous | 0.359 | ambiguous | -0.256 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.508713871 | None | None | N |
| K/R | 0.1151 | likely_benign | 0.1186 | benign | -0.179 | Destabilizing | 0.999 | D | 0.615 | neutral | N | 0.510782411 | None | None | N |
| K/S | 0.8143 | likely_pathogenic | 0.8144 | pathogenic | -0.783 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | N |
| K/T | 0.4272 | ambiguous | 0.4444 | ambiguous | -0.515 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | N | 0.482808782 | None | None | N |
| K/V | 0.6959 | likely_pathogenic | 0.7251 | pathogenic | 0.205 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| K/W | 0.9504 | likely_pathogenic | 0.9552 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/Y | 0.9258 | likely_pathogenic | 0.9307 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.647 | neutral | 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.