Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24565 | 73918;73919;73920 | chr2:178572439;178572438;178572437 | chr2:179437166;179437165;179437164 |
| N2AB | 22924 | 68995;68996;68997 | chr2:178572439;178572438;178572437 | chr2:179437166;179437165;179437164 |
| N2A | 21997 | 66214;66215;66216 | chr2:178572439;178572438;178572437 | chr2:179437166;179437165;179437164 |
| N2B | 15500 | 46723;46724;46725 | chr2:178572439;178572438;178572437 | chr2:179437166;179437165;179437164 |
| Novex-1 | 15625 | 47098;47099;47100 | chr2:178572439;178572438;178572437 | chr2:179437166;179437165;179437164 |
| Novex-2 | 15692 | 47299;47300;47301 | chr2:178572439;178572438;178572437 | chr2:179437166;179437165;179437164 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs772524912  |
-0.326 | 1.0 | N | 0.565 | 0.309 | 0.41219620536 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/T | rs772524912 |
-0.326 | 1.0 | N | 0.565 | 0.309 | 0.41219620536 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs772524912 |
-0.326 | 1.0 | N | 0.565 | 0.309 | 0.41219620536 | gnomAD-4.0.0 | 2.56627E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79619E-06 | 0 | 0 |
| A/V | rs865844614 |
None | 1.0 | N | 0.531 | 0.35 | 0.507628581994 | gnomAD-4.0.0 | 3.42362E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.94686E-04 | 9.00131E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8981 | likely_pathogenic | 0.8653 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| A/D | 0.9876 | likely_pathogenic | 0.9783 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/E | 0.9812 | likely_pathogenic | 0.9684 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.614 | neutral | N | 0.474706595 | None | None | N |
| A/F | 0.9089 | likely_pathogenic | 0.8409 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/G | 0.5951 | likely_pathogenic | 0.4794 | ambiguous | -0.544 | Destabilizing | 0.997 | D | 0.514 | neutral | N | 0.483192792 | None | None | N |
| A/H | 0.9746 | likely_pathogenic | 0.9609 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/I | 0.8607 | likely_pathogenic | 0.7038 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| A/K | 0.9935 | likely_pathogenic | 0.9875 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| A/L | 0.7331 | likely_pathogenic | 0.6032 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | N |
| A/M | 0.7882 | likely_pathogenic | 0.644 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/N | 0.8892 | likely_pathogenic | 0.8137 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/P | 0.9555 | likely_pathogenic | 0.9213 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.469064607 | None | None | N |
| A/Q | 0.9437 | likely_pathogenic | 0.914 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| A/R | 0.9784 | likely_pathogenic | 0.9656 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| A/S | 0.2226 | likely_benign | 0.1936 | benign | -0.737 | Destabilizing | 0.997 | D | 0.533 | neutral | N | 0.440575379 | None | None | N |
| A/T | 0.469 | ambiguous | 0.3051 | benign | -0.751 | Destabilizing | 1.0 | D | 0.565 | neutral | N | 0.422819124 | None | None | N |
| A/V | 0.6468 | likely_pathogenic | 0.4209 | ambiguous | -0.323 | Destabilizing | 1.0 | D | 0.531 | neutral | N | 0.461222797 | None | None | N |
| A/W | 0.9903 | likely_pathogenic | 0.9836 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/Y | 0.9524 | likely_pathogenic | 0.928 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.751 | deleterious | 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.