Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18453 | 55582;55583;55584 | chr2:178601733;178601732;178601731 | chr2:179466460;179466459;179466458 |
| N2AB | 16812 | 50659;50660;50661 | chr2:178601733;178601732;178601731 | chr2:179466460;179466459;179466458 |
| N2A | 15885 | 47878;47879;47880 | chr2:178601733;178601732;178601731 | chr2:179466460;179466459;179466458 |
| N2B | 9388 | 28387;28388;28389 | chr2:178601733;178601732;178601731 | chr2:179466460;179466459;179466458 |
| Novex-1 | 9513 | 28762;28763;28764 | chr2:178601733;178601732;178601731 | chr2:179466460;179466459;179466458 |
| Novex-2 | 9580 | 28963;28964;28965 | chr2:178601733;178601732;178601731 | chr2:179466460;179466459;179466458 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | None | None | 1.0 | N | 0.703 | 0.469 | 0.220303561663 | gnomAD-4.0.0 | 3.20112E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73421E-06 | 0 | 0 |
| H/R | None | None | 1.0 | N | 0.733 | 0.554 | 0.407357902709 | gnomAD-4.0.0 | 6.85901E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17437E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9432 | likely_pathogenic | 0.9479 | pathogenic | -2.218 | Highly Destabilizing | 0.999 | D | 0.692 | prob.neutral | None | None | None | None | N |
| H/C | 0.7154 | likely_pathogenic | 0.7219 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| H/D | 0.4511 | ambiguous | 0.4938 | ambiguous | -2.16 | Highly Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.424133341 | None | None | N |
| H/E | 0.9059 | likely_pathogenic | 0.9224 | pathogenic | -1.937 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| H/F | 0.8755 | likely_pathogenic | 0.8672 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| H/G | 0.9622 | likely_pathogenic | 0.9708 | pathogenic | -2.67 | Highly Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| H/I | 0.9662 | likely_pathogenic | 0.9646 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| H/K | 0.9755 | likely_pathogenic | 0.9809 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| H/L | 0.8179 | likely_pathogenic | 0.8175 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.502315781 | None | None | N |
| H/M | 0.917 | likely_pathogenic | 0.905 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| H/N | 0.3421 | ambiguous | 0.3931 | ambiguous | -2.293 | Highly Destabilizing | 0.999 | D | 0.614 | neutral | N | 0.505792798 | None | None | N |
| H/P | 0.9558 | likely_pathogenic | 0.9694 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.502062291 | None | None | N |
| H/Q | 0.7862 | likely_pathogenic | 0.8132 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.52524535 | None | None | N |
| H/R | 0.9551 | likely_pathogenic | 0.9655 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.483958036 | None | None | N |
| H/S | 0.7874 | likely_pathogenic | 0.8212 | pathogenic | -2.472 | Highly Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| H/T | 0.9473 | likely_pathogenic | 0.9524 | pathogenic | -2.116 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| H/V | 0.9533 | likely_pathogenic | 0.951 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| H/W | 0.9302 | likely_pathogenic | 0.9274 | pathogenic | 0.506 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| H/Y | 0.5689 | likely_pathogenic | 0.586 | pathogenic | 0.201 | Stabilizing | 0.999 | D | 0.634 | neutral | N | 0.502062291 | 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.