Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35028 | 105307;105308;105309 | chr2:178531533;178531532;178531531 | chr2:179396260;179396259;179396258 |
| N2AB | 33387 | 100384;100385;100386 | chr2:178531533;178531532;178531531 | chr2:179396260;179396259;179396258 |
| N2A | 32460 | 97603;97604;97605 | chr2:178531533;178531532;178531531 | chr2:179396260;179396259;179396258 |
| N2B | 25963 | 78112;78113;78114 | chr2:178531533;178531532;178531531 | chr2:179396260;179396259;179396258 |
| Novex-1 | 26088 | 78487;78488;78489 | chr2:178531533;178531532;178531531 | chr2:179396260;179396259;179396258 |
| Novex-2 | 26155 | 78688;78689;78690 | chr2:178531533;178531532;178531531 | chr2:179396260;179396259;179396258 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/M | rs56001826  |
-0.162 | 1.0 | N | 0.776 | 0.45 | 0.671314693576 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| T/M | rs56001826 |
-0.162 | 1.0 | N | 0.776 | 0.45 | 0.671314693576 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/M | rs56001826 |
-0.162 | 1.0 | N | 0.776 | 0.45 | 0.671314693576 | gnomAD-4.0.0 | 5.57693E-06 | None | None | None | None | N | None | 6.67485E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.3902E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.3726 | ambiguous | 0.3913 | ambiguous | -1.257 | Destabilizing | 0.999 | D | 0.542 | neutral | D | 0.530557957 | None | None | N |
| T/C | 0.885 | likely_pathogenic | 0.9005 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/D | 0.9218 | likely_pathogenic | 0.9247 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| T/E | 0.8718 | likely_pathogenic | 0.8706 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| T/F | 0.748 | likely_pathogenic | 0.762 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| T/G | 0.8395 | likely_pathogenic | 0.8504 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/H | 0.7638 | likely_pathogenic | 0.7675 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| T/I | 0.5876 | likely_pathogenic | 0.5738 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| T/K | 0.762 | likely_pathogenic | 0.7509 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.516953941 | None | None | N |
| T/L | 0.3834 | ambiguous | 0.3979 | ambiguous | -0.474 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/M | 0.2794 | likely_benign | 0.289 | benign | -0.235 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.521904974 | None | None | N |
| T/N | 0.6253 | likely_pathogenic | 0.6333 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/P | 0.7186 | likely_pathogenic | 0.7629 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.510295179 | None | None | N |
| T/Q | 0.7299 | likely_pathogenic | 0.728 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| T/R | 0.7034 | likely_pathogenic | 0.6991 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.50389143 | None | None | N |
| T/S | 0.3955 | ambiguous | 0.4272 | ambiguous | -1.114 | Destabilizing | 0.999 | D | 0.528 | neutral | N | 0.475317962 | None | None | N |
| T/V | 0.3884 | ambiguous | 0.3831 | ambiguous | -0.704 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| T/W | 0.9407 | likely_pathogenic | 0.9456 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| T/Y | 0.8128 | likely_pathogenic | 0.8187 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.841 | 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.