Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30254 | 90985;90986;90987 | chr2:178552140;178552139;178552138 | chr2:179416867;179416866;179416865 |
| N2AB | 28613 | 86062;86063;86064 | chr2:178552140;178552139;178552138 | chr2:179416867;179416866;179416865 |
| N2A | 27686 | 83281;83282;83283 | chr2:178552140;178552139;178552138 | chr2:179416867;179416866;179416865 |
| N2B | 21189 | 63790;63791;63792 | chr2:178552140;178552139;178552138 | chr2:179416867;179416866;179416865 |
| Novex-1 | 21314 | 64165;64166;64167 | chr2:178552140;178552139;178552138 | chr2:179416867;179416866;179416865 |
| Novex-2 | 21381 | 64366;64367;64368 | chr2:178552140;178552139;178552138 | chr2:179416867;179416866;179416865 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1060500495  |
None | 1.0 | D | 0.833 | 0.533 | 0.739085393083 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1060500495 |
None | 1.0 | D | 0.833 | 0.533 | 0.739085393083 | gnomAD-4.0.0 | 6.8422E-07 | None | None | None | None | I | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7946 | likely_pathogenic | 0.6118 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.520910107 | None | None | I |
| G/C | 0.8835 | likely_pathogenic | 0.7245 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/D | 0.9184 | likely_pathogenic | 0.8239 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/E | 0.9509 | likely_pathogenic | 0.8777 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.535660227 | None | None | I |
| G/F | 0.9807 | likely_pathogenic | 0.954 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/H | 0.9711 | likely_pathogenic | 0.9161 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/I | 0.9739 | likely_pathogenic | 0.9314 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/K | 0.9747 | likely_pathogenic | 0.9296 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/L | 0.9673 | likely_pathogenic | 0.9171 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/M | 0.9776 | likely_pathogenic | 0.9365 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/N | 0.9269 | likely_pathogenic | 0.8158 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/P | 0.9959 | likely_pathogenic | 0.9915 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/Q | 0.9532 | likely_pathogenic | 0.8733 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/R | 0.9367 | likely_pathogenic | 0.8544 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.524392827 | None | None | I |
| G/S | 0.6577 | likely_pathogenic | 0.4494 | ambiguous | -0.428 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| G/T | 0.9238 | likely_pathogenic | 0.8051 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/V | 0.9601 | likely_pathogenic | 0.8991 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.547777001 | None | None | I |
| G/W | 0.9667 | likely_pathogenic | 0.9272 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/Y | 0.97 | likely_pathogenic | 0.9223 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.788 | deleterious | 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.