Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35339 | 106240;106241;106242 | chr2:178530600;178530599;178530598 | chr2:179395327;179395326;179395325 |
| N2AB | 33698 | 101317;101318;101319 | chr2:178530600;178530599;178530598 | chr2:179395327;179395326;179395325 |
| N2A | 32771 | 98536;98537;98538 | chr2:178530600;178530599;178530598 | chr2:179395327;179395326;179395325 |
| N2B | 26274 | 79045;79046;79047 | chr2:178530600;178530599;178530598 | chr2:179395327;179395326;179395325 |
| Novex-1 | 26399 | 79420;79421;79422 | chr2:178530600;178530599;178530598 | chr2:179395327;179395326;179395325 |
| Novex-2 | 26466 | 79621;79622;79623 | chr2:178530600;178530599;178530598 | chr2:179395327;179395326;179395325 |
| 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 | rs1688685029  |
None | 0.997 | N | 0.654 | 0.475 | 0.218845423259 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs1688685029 |
None | 0.997 | N | 0.654 | 0.475 | 0.218845423259 | gnomAD-4.0.0 | 2.02976E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40981E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4162 | ambiguous | 0.3931 | ambiguous | -0.066 | Destabilizing | 0.999 | D | 0.649 | neutral | N | 0.498665598 | None | None | N |
| D/C | 0.8095 | likely_pathogenic | 0.798 | pathogenic | 0.223 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| D/E | 0.4876 | ambiguous | 0.488 | ambiguous | -0.106 | Destabilizing | 0.992 | D | 0.513 | neutral | N | 0.447004627 | None | None | N |
| D/F | 0.894 | likely_pathogenic | 0.8729 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| D/G | 0.3277 | likely_benign | 0.3049 | benign | -0.176 | Destabilizing | 0.997 | D | 0.654 | neutral | N | 0.495297219 | None | None | N |
| D/H | 0.6638 | likely_pathogenic | 0.6285 | pathogenic | 0.102 | Stabilizing | 1.0 | D | 0.605 | neutral | N | 0.455013189 | None | None | N |
| D/I | 0.8059 | likely_pathogenic | 0.7833 | pathogenic | 0.157 | Stabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/K | 0.7401 | likely_pathogenic | 0.6974 | pathogenic | 0.641 | Stabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| D/L | 0.7385 | likely_pathogenic | 0.7185 | pathogenic | 0.157 | Stabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| D/M | 0.8883 | likely_pathogenic | 0.873 | pathogenic | 0.235 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| D/N | 0.1433 | likely_benign | 0.1356 | benign | 0.422 | Stabilizing | 0.997 | D | 0.65 | neutral | N | 0.446407194 | None | None | N |
| D/P | 0.9321 | likely_pathogenic | 0.9268 | pathogenic | 0.101 | Stabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| D/Q | 0.729 | likely_pathogenic | 0.7062 | pathogenic | 0.436 | Stabilizing | 0.999 | D | 0.654 | neutral | None | None | None | None | N |
| D/R | 0.7454 | likely_pathogenic | 0.7135 | pathogenic | 0.652 | Stabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/S | 0.2206 | likely_benign | 0.2102 | benign | 0.352 | Stabilizing | 0.998 | D | 0.652 | neutral | None | None | None | None | N |
| D/T | 0.4762 | ambiguous | 0.4457 | ambiguous | 0.448 | Stabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| D/V | 0.5975 | likely_pathogenic | 0.5695 | pathogenic | 0.101 | Stabilizing | 0.999 | D | 0.665 | neutral | N | 0.471649413 | None | None | N |
| D/W | 0.9763 | likely_pathogenic | 0.9694 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/Y | 0.5617 | ambiguous | 0.505 | ambiguous | 0.015 | Stabilizing | 1.0 | D | 0.647 | neutral | N | 0.460128524 | 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.