Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20681 | 62266;62267;62268 | chr2:178589684;178589683;178589682 | chr2:179454411;179454410;179454409 |
| N2AB | 19040 | 57343;57344;57345 | chr2:178589684;178589683;178589682 | chr2:179454411;179454410;179454409 |
| N2A | 18113 | 54562;54563;54564 | chr2:178589684;178589683;178589682 | chr2:179454411;179454410;179454409 |
| N2B | 11616 | 35071;35072;35073 | chr2:178589684;178589683;178589682 | chr2:179454411;179454410;179454409 |
| Novex-1 | 11741 | 35446;35447;35448 | chr2:178589684;178589683;178589682 | chr2:179454411;179454410;179454409 |
| Novex-2 | 11808 | 35647;35648;35649 | chr2:178589684;178589683;178589682 | chr2:179454411;179454410;179454409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1031977069  |
None | 1.0 | N | 0.827 | 0.438 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs1031977069 |
None | 1.0 | N | 0.827 | 0.438 | None | gnomAD-4.0.0 | 6.5767E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47098E-05 | 0 | 0 |
| G/R | rs778208423 |
-0.962 | 1.0 | N | 0.832 | 0.432 | 0.5763749866 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/R | rs778208423 |
-0.962 | 1.0 | N | 0.832 | 0.432 | 0.5763749866 | gnomAD-4.0.0 | 1.5918E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85941E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7592 | likely_pathogenic | 0.7016 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.496548879 | None | None | N |
| G/C | 0.9409 | likely_pathogenic | 0.9098 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/D | 0.9345 | likely_pathogenic | 0.9017 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/E | 0.9599 | likely_pathogenic | 0.9317 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.508149952 | None | None | N |
| G/F | 0.9944 | likely_pathogenic | 0.9906 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/H | 0.9855 | likely_pathogenic | 0.9759 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/I | 0.9936 | likely_pathogenic | 0.9893 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/K | 0.99 | likely_pathogenic | 0.9818 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/L | 0.9884 | likely_pathogenic | 0.9814 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/M | 0.9859 | likely_pathogenic | 0.9779 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/N | 0.9385 | likely_pathogenic | 0.9111 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Q | 0.9751 | likely_pathogenic | 0.9588 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/R | 0.9843 | likely_pathogenic | 0.9722 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.479597914 | None | None | N |
| G/S | 0.5995 | likely_pathogenic | 0.5456 | ambiguous | -1.545 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/T | 0.8214 | likely_pathogenic | 0.7569 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/V | 0.9814 | likely_pathogenic | 0.9711 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.478778752 | None | None | N |
| G/W | 0.9872 | likely_pathogenic | 0.9803 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| G/Y | 0.9885 | likely_pathogenic | 0.981 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.771 | deleterious | 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.