Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 988 | 3187;3188;3189 | chr2:178782944;178782943;178782942 | chr2:179647671;179647670;179647669 |
| N2AB | 988 | 3187;3188;3189 | chr2:178782944;178782943;178782942 | chr2:179647671;179647670;179647669 |
| N2A | 988 | 3187;3188;3189 | chr2:178782944;178782943;178782942 | chr2:179647671;179647670;179647669 |
| N2B | 942 | 3049;3050;3051 | chr2:178782944;178782943;178782942 | chr2:179647671;179647670;179647669 |
| Novex-1 | 942 | 3049;3050;3051 | chr2:178782944;178782943;178782942 | chr2:179647671;179647670;179647669 |
| Novex-2 | 942 | 3049;3050;3051 | chr2:178782944;178782943;178782942 | chr2:179647671;179647670;179647669 |
| Novex-3 | 988 | 3187;3188;3189 | chr2:178782944;178782943;178782942 | chr2:179647671;179647670;179647669 |
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/N | None | None | 1.0 | N | 0.641 | 0.349 | 0.324161360171 | gnomAD-4.0.0 | 1.36815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7986E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9567 | likely_pathogenic | 0.9804 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.528582095 | None | None | N |
| D/C | 0.9972 | likely_pathogenic | 0.9986 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/E | 0.9508 | likely_pathogenic | 0.9761 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.401 | neutral | N | 0.499146549 | None | None | N |
| D/F | 0.9896 | likely_pathogenic | 0.9949 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/G | 0.9645 | likely_pathogenic | 0.9843 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.508063802 | None | None | N |
| D/H | 0.9741 | likely_pathogenic | 0.9874 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.508239492 | None | None | N |
| D/I | 0.9902 | likely_pathogenic | 0.9957 | pathogenic | 0.268 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/K | 0.9913 | likely_pathogenic | 0.9956 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/L | 0.9746 | likely_pathogenic | 0.9867 | pathogenic | 0.268 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/M | 0.9974 | likely_pathogenic | 0.9988 | pathogenic | 0.569 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| D/N | 0.8775 | likely_pathogenic | 0.9319 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.480341475 | None | None | N |
| D/P | 0.9936 | likely_pathogenic | 0.9968 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/Q | 0.9868 | likely_pathogenic | 0.9941 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/R | 0.9792 | likely_pathogenic | 0.9901 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/S | 0.9118 | likely_pathogenic | 0.958 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/T | 0.9837 | likely_pathogenic | 0.9929 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/V | 0.9766 | likely_pathogenic | 0.9897 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.506904284 | None | None | N |
| D/W | 0.9974 | likely_pathogenic | 0.9986 | pathogenic | 0.262 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| D/Y | 0.9173 | likely_pathogenic | 0.9534 | pathogenic | 0.244 | Stabilizing | 1.0 | D | 0.759 | deleterious | N | 0.503831865 | 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.