Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2996 | 9211;9212;9213 | chr2:178768850;178768849;178768848 | chr2:179633577;179633576;179633575 |
| N2AB | 2996 | 9211;9212;9213 | chr2:178768850;178768849;178768848 | chr2:179633577;179633576;179633575 |
| N2A | 2996 | 9211;9212;9213 | chr2:178768850;178768849;178768848 | chr2:179633577;179633576;179633575 |
| N2B | 2950 | 9073;9074;9075 | chr2:178768850;178768849;178768848 | chr2:179633577;179633576;179633575 |
| Novex-1 | 2950 | 9073;9074;9075 | chr2:178768850;178768849;178768848 | chr2:179633577;179633576;179633575 |
| Novex-2 | 2950 | 9073;9074;9075 | chr2:178768850;178768849;178768848 | chr2:179633577;179633576;179633575 |
| Novex-3 | 2996 | 9211;9212;9213 | chr2:178768850;178768849;178768848 | chr2:179633577;179633576;179633575 |
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/D | None | -0.466 | 0.999 | N | 0.655 | 0.442 | 0.396494342077 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | None | -0.466 | 0.999 | N | 0.655 | 0.442 | 0.396494342077 | gnomAD-4.0.0 | 6.84097E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| G/S | None | None | 0.999 | N | 0.679 | 0.366 | 0.352693368174 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/V | rs779053650  |
None | 0.999 | N | 0.724 | 0.449 | 0.851011966879 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs779053650 |
None | 0.999 | N | 0.724 | 0.449 | 0.851011966879 | gnomAD-4.0.0 | 3.09801E-06 | None | None | None | None | N | None | 1.33494E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38983E-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 | 0.3908 | ambiguous | 0.4027 | ambiguous | -0.202 | Destabilizing | 0.995 | D | 0.633 | neutral | D | 0.545344809 | None | None | N |
| G/C | 0.648 | likely_pathogenic | 0.6848 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | D | 0.550936313 | None | None | N |
| G/D | 0.2645 | likely_benign | 0.2826 | benign | -0.699 | Destabilizing | 0.999 | D | 0.655 | neutral | N | 0.43535688 | None | None | N |
| G/E | 0.474 | ambiguous | 0.4988 | ambiguous | -0.837 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/F | 0.9297 | likely_pathogenic | 0.9383 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/H | 0.7535 | likely_pathogenic | 0.7917 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| G/I | 0.8584 | likely_pathogenic | 0.8643 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/K | 0.8248 | likely_pathogenic | 0.8559 | pathogenic | -0.753 | Destabilizing | 0.998 | D | 0.758 | deleterious | None | None | None | None | N |
| G/L | 0.8932 | likely_pathogenic | 0.9024 | pathogenic | -0.343 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/M | 0.8696 | likely_pathogenic | 0.8835 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/N | 0.3249 | likely_benign | 0.3413 | ambiguous | -0.401 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| G/P | 0.9714 | likely_pathogenic | 0.9749 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/Q | 0.7204 | likely_pathogenic | 0.7489 | pathogenic | -0.648 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/R | 0.7471 | likely_pathogenic | 0.7902 | pathogenic | -0.346 | Destabilizing | 0.777 | D | 0.623 | neutral | N | 0.508180055 | None | None | N |
| G/S | 0.2184 | likely_benign | 0.2196 | benign | -0.506 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.504297333 | None | None | N |
| G/T | 0.5057 | ambiguous | 0.5153 | ambiguous | -0.578 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/V | 0.7188 | likely_pathogenic | 0.7262 | pathogenic | -0.267 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | N | 0.507368603 | None | None | N |
| G/W | 0.8652 | likely_pathogenic | 0.889 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/Y | 0.8126 | likely_pathogenic | 0.8371 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.691 | 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.