Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4863 | 14812;14813;14814 | chr2:178735859;178735858;178735857 | chr2:179600586;179600585;179600584 |
| N2AB | 4546 | 13861;13862;13863 | chr2:178735859;178735858;178735857 | chr2:179600586;179600585;179600584 |
| N2A | 3619 | 11080;11081;11082 | chr2:178735859;178735858;178735857 | chr2:179600586;179600585;179600584 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs375680312  |
-1.129 | 1.0 | D | 0.848 | 0.82 | None | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.33E-05 | 0 |
| G/E | rs375680312 |
-1.129 | 1.0 | D | 0.848 | 0.82 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| G/E | rs375680312 |
-1.129 | 1.0 | D | 0.848 | 0.82 | None | gnomAD-4.0.0 | 3.47031E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.57692E-05 | 0 | 3.20246E-05 |
| G/R | None | None | 1.0 | D | 0.836 | 0.741 | 0.875011096909 | gnomAD-4.0.0 | 2.05264E-06 | None | None | None | None | I | None | 2.98757E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-07 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4141 | ambiguous | 0.3185 | benign | -0.643 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.576614927 | None | None | I |
| G/C | 0.7854 | likely_pathogenic | 0.7333 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/D | 0.831 | likely_pathogenic | 0.7875 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/E | 0.88 | likely_pathogenic | 0.8586 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.819731495 | None | None | I |
| G/F | 0.9755 | likely_pathogenic | 0.9679 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/H | 0.9577 | likely_pathogenic | 0.9433 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/I | 0.9541 | likely_pathogenic | 0.9402 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/K | 0.951 | likely_pathogenic | 0.9448 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/L | 0.9553 | likely_pathogenic | 0.9375 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/M | 0.9633 | likely_pathogenic | 0.9464 | pathogenic | 0.074 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/N | 0.904 | likely_pathogenic | 0.8637 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/P | 0.9947 | likely_pathogenic | 0.9931 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/Q | 0.9299 | likely_pathogenic | 0.9048 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/R | 0.8837 | likely_pathogenic | 0.879 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.819678848 | None | None | I |
| G/S | 0.4397 | ambiguous | 0.3535 | ambiguous | -1.369 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/T | 0.8382 | likely_pathogenic | 0.7712 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.8851 | likely_pathogenic | 0.8558 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.819731495 | None | None | I |
| G/W | 0.9408 | likely_pathogenic | 0.9356 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/Y | 0.9577 | likely_pathogenic | 0.9441 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
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.