Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21940 | 66043;66044;66045 | chr2:178582985;178582984;178582983 | chr2:179447712;179447711;179447710 |
| N2AB | 20299 | 61120;61121;61122 | chr2:178582985;178582984;178582983 | chr2:179447712;179447711;179447710 |
| N2A | 19372 | 58339;58340;58341 | chr2:178582985;178582984;178582983 | chr2:179447712;179447711;179447710 |
| N2B | 12875 | 38848;38849;38850 | chr2:178582985;178582984;178582983 | chr2:179447712;179447711;179447710 |
| Novex-1 | 13000 | 39223;39224;39225 | chr2:178582985;178582984;178582983 | chr2:179447712;179447711;179447710 |
| Novex-2 | 13067 | 39424;39425;39426 | chr2:178582985;178582984;178582983 | chr2:179447712;179447711;179447710 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs762866554  |
-0.253 | 0.999 | N | 0.605 | 0.547 | 0.289098819767 | gnomAD-2.1.1 | 4.43E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.44E-06 | 0 |
| N/S | rs762866554 |
-0.253 | 0.999 | N | 0.605 | 0.547 | 0.289098819767 | 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 |
| N/S | rs762866554 |
-0.253 | 0.999 | N | 0.605 | 0.547 | 0.289098819767 | gnomAD-4.0.0 | 1.73652E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.35237E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.998 | likely_pathogenic | 0.998 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| N/C | 0.9879 | likely_pathogenic | 0.9884 | pathogenic | 0.093 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| N/D | 0.9909 | likely_pathogenic | 0.9914 | pathogenic | -1.241 | Destabilizing | 0.999 | D | 0.635 | neutral | N | 0.519671296 | None | None | N |
| N/E | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.244 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/F | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| N/G | 0.9948 | likely_pathogenic | 0.9946 | pathogenic | -0.591 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| N/H | 0.9891 | likely_pathogenic | 0.9883 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.539042999 | None | None | N |
| N/I | 0.9914 | likely_pathogenic | 0.9916 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.521192233 | None | None | N |
| N/K | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.53853602 | None | None | N |
| N/L | 0.9919 | likely_pathogenic | 0.9915 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| N/M | 0.9937 | likely_pathogenic | 0.9942 | pathogenic | 0.665 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/R | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | 0.223 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| N/S | 0.9558 | likely_pathogenic | 0.9569 | pathogenic | -0.373 | Destabilizing | 0.999 | D | 0.605 | neutral | N | 0.480638403 | None | None | N |
| N/T | 0.9731 | likely_pathogenic | 0.9759 | pathogenic | -0.25 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | N | 0.519924786 | None | None | N |
| N/V | 0.9933 | likely_pathogenic | 0.9934 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9922 | likely_pathogenic | 0.9919 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.539042999 | 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.