Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30236 | 90931;90932;90933 | chr2:178552194;178552193;178552192 | chr2:179416921;179416920;179416919 |
| N2AB | 28595 | 86008;86009;86010 | chr2:178552194;178552193;178552192 | chr2:179416921;179416920;179416919 |
| N2A | 27668 | 83227;83228;83229 | chr2:178552194;178552193;178552192 | chr2:179416921;179416920;179416919 |
| N2B | 21171 | 63736;63737;63738 | chr2:178552194;178552193;178552192 | chr2:179416921;179416920;179416919 |
| Novex-1 | 21296 | 64111;64112;64113 | chr2:178552194;178552193;178552192 | chr2:179416921;179416920;179416919 |
| Novex-2 | 21363 | 64312;64313;64314 | chr2:178552194;178552193;178552192 | chr2:179416921;179416920;179416919 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | 1.0 | N | 0.635 | 0.483 | 0.459100921832 | gnomAD-4.0.0 | 6.84276E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99509E-07 | 0 | 0 |
| E/K | rs974510652  |
-0.182 | 0.999 | N | 0.573 | 0.384 | 0.385578977469 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| E/K | rs974510652 |
-0.182 | 0.999 | N | 0.573 | 0.384 | 0.385578977469 | 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 |
| E/K | rs974510652 |
-0.182 | 0.999 | N | 0.573 | 0.384 | 0.385578977469 | gnomAD-4.0.0 | 3.844E-06 | None | None | None | None | N | None | 1.69113E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78648E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4653 | ambiguous | 0.3661 | ambiguous | -0.584 | Destabilizing | 0.999 | D | 0.614 | neutral | N | 0.482738317 | None | None | N |
| E/C | 0.9586 | likely_pathogenic | 0.9466 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| E/D | 0.1882 | likely_benign | 0.1436 | benign | -0.643 | Destabilizing | 0.999 | D | 0.435 | neutral | N | 0.454411467 | None | None | N |
| E/F | 0.9558 | likely_pathogenic | 0.9376 | pathogenic | -0.048 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/G | 0.5591 | ambiguous | 0.4139 | ambiguous | -0.884 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.476586251 | None | None | N |
| E/H | 0.8237 | likely_pathogenic | 0.7563 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| E/I | 0.7923 | likely_pathogenic | 0.7435 | pathogenic | 0.212 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/K | 0.5364 | ambiguous | 0.4151 | ambiguous | -0.151 | Destabilizing | 0.999 | D | 0.573 | neutral | N | 0.473979359 | None | None | N |
| E/L | 0.8529 | likely_pathogenic | 0.8012 | pathogenic | 0.212 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| E/M | 0.802 | likely_pathogenic | 0.7451 | pathogenic | 0.324 | Stabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| E/N | 0.5459 | ambiguous | 0.3955 | ambiguous | -0.662 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| E/P | 0.9952 | likely_pathogenic | 0.986 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| E/Q | 0.3813 | ambiguous | 0.3106 | benign | -0.551 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.495046128 | None | None | N |
| E/R | 0.7204 | likely_pathogenic | 0.6213 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| E/S | 0.4951 | ambiguous | 0.3888 | ambiguous | -0.872 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| E/T | 0.5483 | ambiguous | 0.4564 | ambiguous | -0.622 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| E/V | 0.6158 | likely_pathogenic | 0.5478 | ambiguous | -0.032 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.50031282 | None | None | N |
| E/W | 0.9871 | likely_pathogenic | 0.9821 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| E/Y | 0.9138 | likely_pathogenic | 0.8747 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.676 | 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.