Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16270 | 49033;49034;49035 | chr2:178614706;178614705;178614704 | chr2:179479433;179479432;179479431 |
| N2AB | 14629 | 44110;44111;44112 | chr2:178614706;178614705;178614704 | chr2:179479433;179479432;179479431 |
| N2A | 13702 | 41329;41330;41331 | chr2:178614706;178614705;178614704 | chr2:179479433;179479432;179479431 |
| N2B | 7205 | 21838;21839;21840 | chr2:178614706;178614705;178614704 | chr2:179479433;179479432;179479431 |
| Novex-1 | 7330 | 22213;22214;22215 | chr2:178614706;178614705;178614704 | chr2:179479433;179479432;179479431 |
| Novex-2 | 7397 | 22414;22415;22416 | chr2:178614706;178614705;178614704 | chr2:179479433;179479432;179479431 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs2056979046  |
None | 0.122 | N | 0.229 | 0.376 | 0.56713362702 | gnomAD-4.0.0 | 4.78585E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.37848E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs533178407 |
-0.584 | 0.954 | N | 0.522 | 0.347 | 0.710593507571 | gnomAD-2.1.1 | 3.65E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.62622E-04 | None | 0 | 0 | 1.6756E-04 |
| V/I | rs533178407 |
-0.584 | 0.954 | N | 0.522 | 0.347 | 0.710593507571 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14079E-04 | 0 |
| V/I | rs533178407 |
-0.584 | 0.954 | N | 0.522 | 0.347 | 0.710593507571 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/I | rs533178407 |
-0.584 | 0.954 | N | 0.522 | 0.347 | 0.710593507571 | gnomAD-4.0.0 | 1.30284E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.86932E-04 | 6.41293E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5436 | ambiguous | 0.3985 | ambiguous | -1.567 | Destabilizing | 0.122 | N | 0.229 | neutral | N | 0.510990097 | None | None | N |
| V/C | 0.8674 | likely_pathogenic | 0.8193 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| V/D | 0.9862 | likely_pathogenic | 0.9772 | pathogenic | -1.196 | Destabilizing | 0.996 | D | 0.677 | prob.neutral | None | None | None | None | N |
| V/E | 0.9414 | likely_pathogenic | 0.924 | pathogenic | -1.157 | Destabilizing | 0.994 | D | 0.609 | neutral | D | 0.680073812 | None | None | N |
| V/F | 0.7224 | likely_pathogenic | 0.6727 | pathogenic | -1.146 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| V/G | 0.8061 | likely_pathogenic | 0.7129 | pathogenic | -1.928 | Destabilizing | 0.925 | D | 0.604 | neutral | D | 0.641247532 | None | None | N |
| V/H | 0.9831 | likely_pathogenic | 0.9759 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| V/I | 0.1316 | likely_benign | 0.1362 | benign | -0.66 | Destabilizing | 0.954 | D | 0.522 | neutral | N | 0.518939888 | None | None | N |
| V/K | 0.943 | likely_pathogenic | 0.9289 | pathogenic | -1.196 | Destabilizing | 0.991 | D | 0.615 | neutral | None | None | None | None | N |
| V/L | 0.6382 | likely_pathogenic | 0.6178 | pathogenic | -0.66 | Destabilizing | 0.91 | D | 0.475 | neutral | D | 0.543714799 | None | None | N |
| V/M | 0.513 | ambiguous | 0.4765 | ambiguous | -0.601 | Destabilizing | 0.999 | D | 0.554 | neutral | None | None | None | None | N |
| V/N | 0.9523 | likely_pathogenic | 0.9188 | pathogenic | -1.07 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/P | 0.9944 | likely_pathogenic | 0.9925 | pathogenic | -0.928 | Destabilizing | 0.996 | D | 0.617 | neutral | None | None | None | None | N |
| V/Q | 0.9059 | likely_pathogenic | 0.8774 | pathogenic | -1.181 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| V/R | 0.9292 | likely_pathogenic | 0.9082 | pathogenic | -0.78 | Destabilizing | 0.996 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/S | 0.8264 | likely_pathogenic | 0.7114 | pathogenic | -1.707 | Destabilizing | 0.942 | D | 0.564 | neutral | None | None | None | None | N |
| V/T | 0.586 | likely_pathogenic | 0.4719 | ambiguous | -1.546 | Destabilizing | 0.97 | D | 0.509 | neutral | None | None | None | None | N |
| V/W | 0.9962 | likely_pathogenic | 0.9949 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| V/Y | 0.9682 | likely_pathogenic | 0.9539 | pathogenic | -1.034 | Destabilizing | 0.999 | D | 0.618 | neutral | None | None | 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.