Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4720 | 14383;14384;14385 | chr2:178738295;178738294;178738293 | chr2:179603022;179603021;179603020 |
| N2AB | 4403 | 13432;13433;13434 | chr2:178738295;178738294;178738293 | chr2:179603022;179603021;179603020 |
| N2A | 3476 | 10651;10652;10653 | chr2:178738295;178738294;178738293 | chr2:179603022;179603021;179603020 |
| N2B | 4357 | 13294;13295;13296 | chr2:178738295;178738294;178738293 | chr2:179603022;179603021;179603020 |
| Novex-1 | 4482 | 13669;13670;13671 | chr2:178738295;178738294;178738293 | chr2:179603022;179603021;179603020 |
| Novex-2 | 4549 | 13870;13871;13872 | chr2:178738295;178738294;178738293 | chr2:179603022;179603021;179603020 |
| 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/A | None | None | 0.91 | N | 0.533 | 0.276 | 0.361160317528 | gnomAD-4.0.0 | 1.59206E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85905E-06 | 0 | 0 |
| T/I | rs373130116  |
0.062 | 0.998 | N | 0.599 | 0.504 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/I | rs373130116 |
0.062 | 0.998 | N | 0.599 | 0.504 | None | gnomAD-4.0.0 | 3.18402E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71817E-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 | 0.1119 | likely_benign | 0.1441 | benign | -1.26 | Destabilizing | 0.91 | D | 0.533 | neutral | N | 0.479640412 | None | None | N |
| T/C | 0.4963 | ambiguous | 0.582 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| T/D | 0.4123 | ambiguous | 0.5266 | ambiguous | -0.797 | Destabilizing | 0.871 | D | 0.531 | neutral | None | None | None | None | N |
| T/E | 0.3228 | likely_benign | 0.3999 | ambiguous | -0.669 | Destabilizing | 0.057 | N | 0.399 | neutral | None | None | None | None | N |
| T/F | 0.2399 | likely_benign | 0.3242 | benign | -1.025 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/G | 0.3626 | ambiguous | 0.4481 | ambiguous | -1.633 | Destabilizing | 0.985 | D | 0.581 | neutral | None | None | None | None | N |
| T/H | 0.2489 | likely_benign | 0.3116 | benign | -1.708 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/I | 0.1595 | likely_benign | 0.2032 | benign | -0.305 | Destabilizing | 0.998 | D | 0.599 | neutral | N | 0.481441926 | None | None | N |
| T/K | 0.2742 | likely_benign | 0.3518 | ambiguous | -0.643 | Destabilizing | 0.97 | D | 0.535 | neutral | None | None | None | None | N |
| T/L | 0.1321 | likely_benign | 0.1639 | benign | -0.305 | Destabilizing | 0.985 | D | 0.513 | neutral | None | None | None | None | N |
| T/M | 0.1188 | likely_benign | 0.1457 | benign | -0.1 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| T/N | 0.1483 | likely_benign | 0.1926 | benign | -1.013 | Destabilizing | 0.98 | D | 0.521 | neutral | N | 0.478621272 | None | None | N |
| T/P | 0.3192 | likely_benign | 0.3949 | ambiguous | -0.591 | Destabilizing | 0.998 | D | 0.571 | neutral | N | 0.481099037 | None | None | N |
| T/Q | 0.2506 | likely_benign | 0.3015 | benign | -0.968 | Destabilizing | 0.97 | D | 0.535 | neutral | None | None | None | None | N |
| T/R | 0.1946 | likely_benign | 0.2558 | benign | -0.639 | Destabilizing | 0.991 | D | 0.567 | neutral | None | None | None | None | N |
| T/S | 0.1099 | likely_benign | 0.1327 | benign | -1.362 | Destabilizing | 0.91 | D | 0.576 | neutral | N | 0.397572079 | None | None | N |
| T/V | 0.1481 | likely_benign | 0.1784 | benign | -0.591 | Destabilizing | 0.985 | D | 0.546 | neutral | None | None | None | None | N |
| T/W | 0.6017 | likely_pathogenic | 0.7101 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/Y | 0.3078 | likely_benign | 0.3803 | ambiguous | -0.71 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | 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.