Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25036 | 75331;75332;75333 | chr2:178571026;178571025;178571024 | chr2:179435753;179435752;179435751 |
| N2AB | 23395 | 70408;70409;70410 | chr2:178571026;178571025;178571024 | chr2:179435753;179435752;179435751 |
| N2A | 22468 | 67627;67628;67629 | chr2:178571026;178571025;178571024 | chr2:179435753;179435752;179435751 |
| N2B | 15971 | 48136;48137;48138 | chr2:178571026;178571025;178571024 | chr2:179435753;179435752;179435751 |
| Novex-1 | 16096 | 48511;48512;48513 | chr2:178571026;178571025;178571024 | chr2:179435753;179435752;179435751 |
| Novex-2 | 16163 | 48712;48713;48714 | chr2:178571026;178571025;178571024 | chr2:179435753;179435752;179435751 |
| 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/N | None | None | 0.993 | N | 0.674 | 0.299 | 0.290590437066 | gnomAD-4.0.0 | 6.84736E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00179E-07 | 0 | 0 |
| S/R | None | None | 0.998 | N | 0.635 | 0.354 | 0.316788114976 | gnomAD-4.0.0 | 1.3694E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31959E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1122 | likely_benign | 0.1142 | benign | -0.521 | Destabilizing | 0.931 | D | 0.523 | neutral | None | None | None | None | I |
| S/C | 0.1035 | likely_benign | 0.1112 | benign | -0.264 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.488667027 | None | None | I |
| S/D | 0.9079 | likely_pathogenic | 0.9031 | pathogenic | -0.379 | Destabilizing | 0.995 | D | 0.655 | neutral | None | None | None | None | I |
| S/E | 0.911 | likely_pathogenic | 0.8973 | pathogenic | -0.457 | Destabilizing | 0.995 | D | 0.65 | neutral | None | None | None | None | I |
| S/F | 0.3235 | likely_benign | 0.3148 | benign | -1.066 | Destabilizing | 0.996 | D | 0.694 | prob.neutral | None | None | None | None | I |
| S/G | 0.2642 | likely_benign | 0.2649 | benign | -0.663 | Destabilizing | 0.993 | D | 0.567 | neutral | N | 0.51909209 | None | None | I |
| S/H | 0.648 | likely_pathogenic | 0.6276 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | I |
| S/I | 0.4533 | ambiguous | 0.4401 | ambiguous | -0.266 | Destabilizing | 0.122 | N | 0.452 | neutral | N | 0.495299618 | None | None | I |
| S/K | 0.9686 | likely_pathogenic | 0.965 | pathogenic | -0.605 | Destabilizing | 0.995 | D | 0.659 | neutral | None | None | None | None | I |
| S/L | 0.175 | likely_benign | 0.1741 | benign | -0.266 | Destabilizing | 0.871 | D | 0.613 | neutral | None | None | None | None | I |
| S/M | 0.3114 | likely_benign | 0.2993 | benign | 0.265 | Stabilizing | 0.996 | D | 0.638 | neutral | None | None | None | None | I |
| S/N | 0.4946 | ambiguous | 0.4844 | ambiguous | -0.414 | Destabilizing | 0.993 | D | 0.674 | neutral | N | 0.506655923 | None | None | I |
| S/P | 0.9734 | likely_pathogenic | 0.9731 | pathogenic | -0.322 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | I |
| S/Q | 0.8218 | likely_pathogenic | 0.792 | pathogenic | -0.744 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | I |
| S/R | 0.9403 | likely_pathogenic | 0.9344 | pathogenic | -0.323 | Destabilizing | 0.998 | D | 0.635 | neutral | N | 0.493107117 | None | None | I |
| S/T | 0.2401 | likely_benign | 0.2488 | benign | -0.483 | Destabilizing | 0.98 | D | 0.587 | neutral | N | 0.483031486 | None | None | I |
| S/V | 0.3817 | ambiguous | 0.3838 | ambiguous | -0.322 | Destabilizing | 0.871 | D | 0.611 | neutral | None | None | None | None | I |
| S/W | 0.5237 | ambiguous | 0.4993 | ambiguous | -1.039 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| S/Y | 0.3321 | likely_benign | 0.3203 | benign | -0.772 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | I |
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.