Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2977 | 9154;9155;9156 | chr2:178768907;178768906;178768905 | chr2:179633634;179633633;179633632 |
| N2AB | 2977 | 9154;9155;9156 | chr2:178768907;178768906;178768905 | chr2:179633634;179633633;179633632 |
| N2A | 2977 | 9154;9155;9156 | chr2:178768907;178768906;178768905 | chr2:179633634;179633633;179633632 |
| N2B | 2931 | 9016;9017;9018 | chr2:178768907;178768906;178768905 | chr2:179633634;179633633;179633632 |
| Novex-1 | 2931 | 9016;9017;9018 | chr2:178768907;178768906;178768905 | chr2:179633634;179633633;179633632 |
| Novex-2 | 2931 | 9016;9017;9018 | chr2:178768907;178768906;178768905 | chr2:179633634;179633633;179633632 |
| Novex-3 | 2977 | 9154;9155;9156 | chr2:178768907;178768906;178768905 | chr2:179633634;179633633;179633632 |
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 | 0.602 | 0.389 | 0.141422826196 | gnomAD-4.0.0 | 1.59098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77824E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9415 | likely_pathogenic | 0.9311 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.583589656 | None | None | N |
| D/C | 0.9965 | likely_pathogenic | 0.9964 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| D/E | 0.8979 | likely_pathogenic | 0.8773 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.4 | neutral | N | 0.492463177 | None | None | N |
| D/F | 0.9964 | likely_pathogenic | 0.9969 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/G | 0.8686 | likely_pathogenic | 0.8538 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.620264689 | None | None | N |
| D/H | 0.9669 | likely_pathogenic | 0.9687 | pathogenic | 0.118 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | D | 0.624269869 | None | None | N |
| D/I | 0.9929 | likely_pathogenic | 0.9935 | pathogenic | 0.353 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/K | 0.9879 | likely_pathogenic | 0.9872 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/L | 0.9926 | likely_pathogenic | 0.9925 | pathogenic | 0.353 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/M | 0.9967 | likely_pathogenic | 0.9969 | pathogenic | 0.536 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/N | 0.5053 | ambiguous | 0.4899 | ambiguous | -0.673 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.453424905 | None | None | N |
| D/P | 0.9759 | likely_pathogenic | 0.9734 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/Q | 0.9903 | likely_pathogenic | 0.9891 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| D/R | 0.9911 | likely_pathogenic | 0.9905 | pathogenic | 0.186 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/S | 0.8502 | likely_pathogenic | 0.8245 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| D/T | 0.9672 | likely_pathogenic | 0.9677 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/V | 0.9752 | likely_pathogenic | 0.9761 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.747 | deleterious | D | 0.62232511 | None | None | N |
| D/W | 0.999 | likely_pathogenic | 0.9992 | pathogenic | 0.366 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| D/Y | 0.9479 | likely_pathogenic | 0.9548 | pathogenic | 0.368 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.585517092 | 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.