Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35428 | 106507;106508;106509 | chr2:178530333;178530332;178530331 | chr2:179395060;179395059;179395058 |
| N2AB | 33787 | 101584;101585;101586 | chr2:178530333;178530332;178530331 | chr2:179395060;179395059;179395058 |
| N2A | 32860 | 98803;98804;98805 | chr2:178530333;178530332;178530331 | chr2:179395060;179395059;179395058 |
| N2B | 26363 | 79312;79313;79314 | chr2:178530333;178530332;178530331 | chr2:179395060;179395059;179395058 |
| Novex-1 | 26488 | 79687;79688;79689 | chr2:178530333;178530332;178530331 | chr2:179395060;179395059;179395058 |
| Novex-2 | 26555 | 79888;79889;79890 | chr2:178530333;178530332;178530331 | chr2:179395060;179395059;179395058 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/V | rs759065895  |
0.258 | 0.999 | N | 0.679 | 0.377 | 0.507807437176 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/V | rs759065895 |
0.258 | 0.999 | N | 0.679 | 0.377 | 0.507807437176 | gnomAD-4.0.0 | 4.77287E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29812E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4811 | ambiguous | 0.5361 | ambiguous | -0.161 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.469938936 | None | None | N |
| D/C | 0.9406 | likely_pathogenic | 0.9523 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| D/E | 0.3989 | ambiguous | 0.4424 | ambiguous | -0.313 | Destabilizing | 0.992 | D | 0.421 | neutral | N | 0.461189524 | None | None | N |
| D/F | 0.9214 | likely_pathogenic | 0.9426 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| D/G | 0.3645 | ambiguous | 0.4119 | ambiguous | -0.351 | Destabilizing | 0.997 | D | 0.641 | neutral | N | 0.487282723 | None | None | N |
| D/H | 0.7099 | likely_pathogenic | 0.7485 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.605 | neutral | N | 0.474320256 | None | None | N |
| D/I | 0.8327 | likely_pathogenic | 0.8708 | pathogenic | 0.286 | Stabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/K | 0.7853 | likely_pathogenic | 0.8237 | pathogenic | 0.254 | Stabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/L | 0.8377 | likely_pathogenic | 0.8744 | pathogenic | 0.286 | Stabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/M | 0.9305 | likely_pathogenic | 0.9489 | pathogenic | 0.453 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| D/N | 0.1692 | likely_benign | 0.1782 | benign | 0.117 | Stabilizing | 0.997 | D | 0.608 | neutral | N | 0.482664356 | None | None | N |
| D/P | 0.8379 | likely_pathogenic | 0.853 | pathogenic | 0.159 | Stabilizing | 0.999 | D | 0.692 | prob.neutral | None | None | None | None | N |
| D/Q | 0.7757 | likely_pathogenic | 0.816 | pathogenic | 0.134 | Stabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| D/R | 0.8533 | likely_pathogenic | 0.8859 | pathogenic | 0.35 | Stabilizing | 0.999 | D | 0.668 | neutral | None | None | None | None | N |
| D/S | 0.3423 | ambiguous | 0.3863 | ambiguous | -0.012 | Destabilizing | 0.998 | D | 0.581 | neutral | None | None | None | None | N |
| D/T | 0.644 | likely_pathogenic | 0.697 | pathogenic | 0.124 | Stabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/V | 0.6497 | likely_pathogenic | 0.7081 | pathogenic | 0.159 | Stabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.471091025 | None | None | N |
| D/W | 0.985 | likely_pathogenic | 0.9894 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| D/Y | 0.5821 | likely_pathogenic | 0.6392 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.497197451 | 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.