Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2958 | 9097;9098;9099 | chr2:178769709;178769708;178769707 | chr2:179634436;179634435;179634434 |
| N2AB | 2958 | 9097;9098;9099 | chr2:178769709;178769708;178769707 | chr2:179634436;179634435;179634434 |
| N2A | 2958 | 9097;9098;9099 | chr2:178769709;178769708;178769707 | chr2:179634436;179634435;179634434 |
| N2B | 2912 | 8959;8960;8961 | chr2:178769709;178769708;178769707 | chr2:179634436;179634435;179634434 |
| Novex-1 | 2912 | 8959;8960;8961 | chr2:178769709;178769708;178769707 | chr2:179634436;179634435;179634434 |
| Novex-2 | 2912 | 8959;8960;8961 | chr2:178769709;178769708;178769707 | chr2:179634436;179634435;179634434 |
| Novex-3 | 2958 | 9097;9098;9099 | chr2:178769709;178769708;178769707 | chr2:179634436;179634435;179634434 |
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/G | None | None | 0.998 | N | 0.637 | 0.759 | 0.324436698001 | gnomAD-4.0.0 | 1.5916E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| D/Y | rs745379216  |
-0.047 | 1.0 | N | 0.762 | 0.665 | 0.712699868057 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| D/Y | rs745379216 |
-0.047 | 1.0 | N | 0.762 | 0.665 | 0.712699868057 | gnomAD-4.0.0 | 3.18347E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85799E-06 | 1.43365E-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 | 0.6293 | likely_pathogenic | 0.5937 | pathogenic | -0.266 | Destabilizing | 0.999 | D | 0.633 | neutral | N | 0.461214284 | None | None | N |
| D/C | 0.96 | likely_pathogenic | 0.952 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| D/E | 0.6169 | likely_pathogenic | 0.5868 | pathogenic | -0.652 | Destabilizing | 0.767 | D | 0.317 | neutral | N | 0.502684379 | None | None | N |
| D/F | 0.9528 | likely_pathogenic | 0.9466 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/G | 0.7758 | likely_pathogenic | 0.7471 | pathogenic | -0.548 | Destabilizing | 0.998 | D | 0.637 | neutral | N | 0.508055853 | None | None | N |
| D/H | 0.7372 | likely_pathogenic | 0.7409 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.600156347 | None | None | N |
| D/I | 0.9077 | likely_pathogenic | 0.8941 | pathogenic | 0.446 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/K | 0.8689 | likely_pathogenic | 0.8588 | pathogenic | -0.143 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| D/L | 0.9081 | likely_pathogenic | 0.8913 | pathogenic | 0.446 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/M | 0.962 | likely_pathogenic | 0.9557 | pathogenic | 0.697 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/N | 0.3229 | likely_benign | 0.3187 | benign | -0.418 | Destabilizing | 0.999 | D | 0.671 | neutral | N | 0.509205536 | None | None | N |
| D/P | 0.9955 | likely_pathogenic | 0.9954 | pathogenic | 0.234 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/Q | 0.7993 | likely_pathogenic | 0.7841 | pathogenic | -0.333 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/R | 0.8781 | likely_pathogenic | 0.8714 | pathogenic | -0.027 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| D/S | 0.3868 | ambiguous | 0.3743 | ambiguous | -0.569 | Destabilizing | 0.997 | D | 0.611 | neutral | None | None | None | None | N |
| D/T | 0.7381 | likely_pathogenic | 0.732 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| D/V | 0.7832 | likely_pathogenic | 0.7561 | pathogenic | 0.234 | Stabilizing | 0.999 | D | 0.736 | prob.delet. | N | 0.491083414 | None | None | N |
| D/W | 0.9941 | likely_pathogenic | 0.9937 | pathogenic | -0.075 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/Y | 0.7576 | likely_pathogenic | 0.7262 | pathogenic | 0.054 | Stabilizing | 1.0 | D | 0.762 | deleterious | N | 0.50712909 | 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.