Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5516 | 16771;16772;16773 | chr2:178732515;178732514;178732513 | chr2:179597242;179597241;179597240 |
| N2AB | 5199 | 15820;15821;15822 | chr2:178732515;178732514;178732513 | chr2:179597242;179597241;179597240 |
| N2A | 4272 | 13039;13040;13041 | chr2:178732515;178732514;178732513 | chr2:179597242;179597241;179597240 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 0.989 | D | 0.729 | 0.742 | 0.648095352874 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| D/Y | rs72648940  |
0.576 | 0.994 | D | 0.845 | 0.491 | None | gnomAD-2.1.1 | 5.21779E-04 | None | None | None | None | N | None | 4.13E-05 | 6.79656E-04 | None | 0 | 0 | None | 3.27E-05 | None | 4E-05 | 9.07583E-04 | 4.22297E-04 |
| D/Y | rs72648940 |
0.576 | 0.994 | D | 0.845 | 0.491 | None | gnomAD-3.1.2 | 3.81123E-04 | None | None | None | None | N | None | 2.41E-05 | 3.27397E-04 | 0 | 0 | 0 | None | 0 | 0 | 7.35013E-04 | 0 | 9.56938E-04 |
| D/Y | rs72648940 |
0.576 | 0.994 | D | 0.845 | 0.491 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| D/Y | rs72648940 |
0.576 | 0.994 | D | 0.845 | 0.491 | None | gnomAD-4.0.0 | 5.34162E-04 | None | None | None | None | N | None | 2.66517E-05 | 6.0006E-04 | None | 0 | 0 | None | 1.87459E-04 | 3.3036E-04 | 6.65392E-04 | 2.19597E-05 | 3.682E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4655 | ambiguous | 0.5335 | ambiguous | -0.36 | Destabilizing | 0.978 | D | 0.791 | deleterious | D | 0.590242455 | None | None | N |
| D/C | 0.8465 | likely_pathogenic | 0.8836 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/E | 0.397 | ambiguous | 0.452 | ambiguous | -0.576 | Destabilizing | 0.9 | D | 0.617 | neutral | D | 0.579512879 | None | None | N |
| D/F | 0.8203 | likely_pathogenic | 0.8695 | pathogenic | 0.331 | Stabilizing | 0.998 | D | 0.845 | deleterious | None | None | None | None | N |
| D/G | 0.6186 | likely_pathogenic | 0.6961 | pathogenic | -0.751 | Destabilizing | 0.989 | D | 0.729 | prob.delet. | D | 0.606463621 | None | None | N |
| D/H | 0.4465 | ambiguous | 0.4725 | ambiguous | 0.151 | Stabilizing | 0.421 | N | 0.571 | neutral | D | 0.567862091 | None | None | N |
| D/I | 0.7508 | likely_pathogenic | 0.8344 | pathogenic | 0.686 | Stabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| D/K | 0.7743 | likely_pathogenic | 0.8206 | pathogenic | 0.128 | Stabilizing | 0.99 | D | 0.753 | deleterious | None | None | None | None | N |
| D/L | 0.7564 | likely_pathogenic | 0.8213 | pathogenic | 0.686 | Stabilizing | 0.995 | D | 0.852 | deleterious | None | None | None | None | N |
| D/M | 0.8415 | likely_pathogenic | 0.8851 | pathogenic | 1.079 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/N | 0.2234 | likely_benign | 0.2509 | benign | -0.687 | Destabilizing | 0.978 | D | 0.667 | neutral | D | 0.570519178 | None | None | N |
| D/P | 0.9709 | likely_pathogenic | 0.9774 | pathogenic | 0.363 | Stabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| D/Q | 0.5709 | likely_pathogenic | 0.6207 | pathogenic | -0.463 | Destabilizing | 0.84 | D | 0.473 | neutral | None | None | None | None | N |
| D/R | 0.8065 | likely_pathogenic | 0.8545 | pathogenic | 0.285 | Stabilizing | 0.995 | D | 0.832 | deleterious | None | None | None | None | N |
| D/S | 0.3059 | likely_benign | 0.3627 | ambiguous | -0.891 | Destabilizing | 0.983 | D | 0.651 | neutral | None | None | None | None | N |
| D/T | 0.6281 | likely_pathogenic | 0.7078 | pathogenic | -0.529 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | N |
| D/V | 0.575 | likely_pathogenic | 0.6785 | pathogenic | 0.363 | Stabilizing | 0.997 | D | 0.852 | deleterious | D | 0.632405341 | None | None | N |
| D/W | 0.9682 | likely_pathogenic | 0.9783 | pathogenic | 0.613 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/Y | 0.4655 | ambiguous | 0.5373 | ambiguous | 0.643 | Stabilizing | 0.994 | D | 0.845 | deleterious | D | 0.594825028 | 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.