Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31326 | 94201;94202;94203 | chr2:178547650;178547649;178547648 | chr2:179412377;179412376;179412375 |
| N2AB | 29685 | 89278;89279;89280 | chr2:178547650;178547649;178547648 | chr2:179412377;179412376;179412375 |
| N2A | 28758 | 86497;86498;86499 | chr2:178547650;178547649;178547648 | chr2:179412377;179412376;179412375 |
| N2B | 22261 | 67006;67007;67008 | chr2:178547650;178547649;178547648 | chr2:179412377;179412376;179412375 |
| Novex-1 | 22386 | 67381;67382;67383 | chr2:178547650;178547649;178547648 | chr2:179412377;179412376;179412375 |
| Novex-2 | 22453 | 67582;67583;67584 | chr2:178547650;178547649;178547648 | chr2:179412377;179412376;179412375 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs968969255  |
None | 1.0 | N | 0.893 | 0.404 | 0.78629844457 | gnomAD-4.0.0 | 4.7733E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 2.85802E-06 | 0 | 3.02352E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5809 | likely_pathogenic | 0.6287 | pathogenic | -1.409 | Destabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | N |
| C/D | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| C/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| C/F | 0.8302 | likely_pathogenic | 0.863 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.502045125 | None | None | N |
| C/G | 0.7709 | likely_pathogenic | 0.7961 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.483669234 | None | None | N |
| C/H | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| C/I | 0.541 | ambiguous | 0.6214 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| C/L | 0.6283 | likely_pathogenic | 0.6735 | pathogenic | -0.532 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| C/M | 0.8043 | likely_pathogenic | 0.7929 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| C/N | 0.9968 | likely_pathogenic | 0.9959 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| C/Q | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| C/R | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.483669234 | None | None | N |
| C/S | 0.8554 | likely_pathogenic | 0.8567 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.483415744 | None | None | N |
| C/T | 0.856 | likely_pathogenic | 0.8564 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| C/V | 0.363 | ambiguous | 0.4145 | ambiguous | -0.801 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| C/W | 0.9927 | likely_pathogenic | 0.9938 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.483669234 | None | None | N |
| C/Y | 0.9771 | likely_pathogenic | 0.9789 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.483415744 | 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.