Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17958 | 54097;54098;54099 | chr2:178605423;178605422;178605421 | chr2:179470150;179470149;179470148 |
| N2AB | 16317 | 49174;49175;49176 | chr2:178605423;178605422;178605421 | chr2:179470150;179470149;179470148 |
| N2A | 15390 | 46393;46394;46395 | chr2:178605423;178605422;178605421 | chr2:179470150;179470149;179470148 |
| N2B | 8893 | 26902;26903;26904 | chr2:178605423;178605422;178605421 | chr2:179470150;179470149;179470148 |
| Novex-1 | 9018 | 27277;27278;27279 | chr2:178605423;178605422;178605421 | chr2:179470150;179470149;179470148 |
| Novex-2 | 9085 | 27478;27479;27480 | chr2:178605423;178605422;178605421 | chr2:179470150;179470149;179470148 |
| 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/Y | None | None | 1.0 | N | 0.782 | 0.527 | 0.626665467207 | gnomAD-4.0.0 | 1.65127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.51355E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.892 | likely_pathogenic | 0.8667 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.7 | prob.delet. | N | 0.482555287 | None | None | N |
| D/C | 0.993 | likely_pathogenic | 0.9907 | pathogenic | 0.051 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| D/E | 0.7207 | likely_pathogenic | 0.6902 | pathogenic | -0.595 | Destabilizing | 0.999 | D | 0.46 | neutral | N | 0.447805208 | None | None | N |
| D/F | 0.9891 | likely_pathogenic | 0.9868 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| D/G | 0.9033 | likely_pathogenic | 0.8634 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.705 | prob.delet. | N | 0.47155246 | None | None | N |
| D/H | 0.9621 | likely_pathogenic | 0.9487 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.473326887 | None | None | N |
| D/I | 0.9815 | likely_pathogenic | 0.9806 | pathogenic | 0.341 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| D/K | 0.9771 | likely_pathogenic | 0.9704 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.727 | deleterious | None | None | None | None | N |
| D/L | 0.9651 | likely_pathogenic | 0.9579 | pathogenic | 0.341 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/M | 0.9882 | likely_pathogenic | 0.9855 | pathogenic | 0.641 | Stabilizing | 1.0 | D | 0.704 | prob.delet. | None | None | None | None | N |
| D/N | 0.6808 | likely_pathogenic | 0.5913 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.61 | neutral | N | 0.513686271 | None | None | N |
| D/P | 0.9782 | likely_pathogenic | 0.972 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.724 | deleterious | None | None | None | None | N |
| D/Q | 0.9669 | likely_pathogenic | 0.9597 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.733 | deleterious | None | None | None | None | N |
| D/R | 0.9801 | likely_pathogenic | 0.9738 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/S | 0.8601 | likely_pathogenic | 0.8093 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/T | 0.9523 | likely_pathogenic | 0.9425 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.727 | deleterious | None | None | None | None | N |
| D/V | 0.9432 | likely_pathogenic | 0.9398 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.490506089 | None | None | N |
| D/W | 0.9963 | likely_pathogenic | 0.996 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.723 | deleterious | None | None | None | None | N |
| D/Y | 0.9241 | likely_pathogenic | 0.9089 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.491266557 | 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.