Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14432 | 43519;43520;43521 | chr2:178632712;178632711;178632710 | chr2:179497439;179497438;179497437 |
| N2AB | 12791 | 38596;38597;38598 | chr2:178632712;178632711;178632710 | chr2:179497439;179497438;179497437 |
| N2A | 11864 | 35815;35816;35817 | chr2:178632712;178632711;178632710 | chr2:179497439;179497438;179497437 |
| N2B | 5367 | 16324;16325;16326 | chr2:178632712;178632711;178632710 | chr2:179497439;179497438;179497437 |
| Novex-1 | 5492 | 16699;16700;16701 | chr2:178632712;178632711;178632710 | chr2:179497439;179497438;179497437 |
| Novex-2 | 5559 | 16900;16901;16902 | chr2:178632712;178632711;178632710 | chr2:179497439;179497438;179497437 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs1204829254  |
-0.906 | 1.0 | D | 0.707 | 0.454 | 0.67357427822 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs1204829254 |
-0.906 | 1.0 | D | 0.707 | 0.454 | 0.67357427822 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1204829254 |
-0.906 | 1.0 | D | 0.707 | 0.454 | 0.67357427822 | gnomAD-4.0.0 | 6.57981E-06 | None | None | None | None | N | None | 2.41569E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.5333 | ambiguous | 0.5545 | ambiguous | -0.438 | Destabilizing | 0.997 | D | 0.395 | neutral | D | 0.568541801 | None | None | N |
| S/C | 0.7466 | likely_pathogenic | 0.7565 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | D | 0.699754534 | None | None | N |
| S/D | 0.9285 | likely_pathogenic | 0.9338 | pathogenic | 0.327 | Stabilizing | 0.999 | D | 0.581 | neutral | None | None | None | None | N |
| S/E | 0.9735 | likely_pathogenic | 0.9765 | pathogenic | 0.307 | Stabilizing | 0.999 | D | 0.57 | neutral | None | None | None | None | N |
| S/F | 0.9419 | likely_pathogenic | 0.9415 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.606756521 | None | None | N |
| S/G | 0.6113 | likely_pathogenic | 0.5763 | pathogenic | -0.663 | Destabilizing | 0.999 | D | 0.461 | neutral | None | None | None | None | N |
| S/H | 0.9561 | likely_pathogenic | 0.9522 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| S/I | 0.8762 | likely_pathogenic | 0.8847 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| S/K | 0.9969 | likely_pathogenic | 0.9964 | pathogenic | -0.505 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| S/L | 0.7255 | likely_pathogenic | 0.7344 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| S/M | 0.8584 | likely_pathogenic | 0.8643 | pathogenic | 0.071 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| S/N | 0.6947 | likely_pathogenic | 0.6665 | pathogenic | -0.385 | Destabilizing | 0.999 | D | 0.541 | neutral | None | None | None | None | N |
| S/P | 0.9747 | likely_pathogenic | 0.9741 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.698021472 | None | None | N |
| S/Q | 0.9748 | likely_pathogenic | 0.9757 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| S/R | 0.9935 | likely_pathogenic | 0.9921 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/T | 0.4186 | ambiguous | 0.4238 | ambiguous | -0.46 | Destabilizing | 0.999 | D | 0.429 | neutral | N | 0.505963283 | None | None | N |
| S/V | 0.8925 | likely_pathogenic | 0.8989 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| S/W | 0.9498 | likely_pathogenic | 0.9469 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| S/Y | 0.9012 | likely_pathogenic | 0.8939 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.698021472 | 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.