Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30455 | 91588;91589;91590 | chr2:178551168;178551167;178551166 | chr2:179415895;179415894;179415893 |
| N2AB | 28814 | 86665;86666;86667 | chr2:178551168;178551167;178551166 | chr2:179415895;179415894;179415893 |
| N2A | 27887 | 83884;83885;83886 | chr2:178551168;178551167;178551166 | chr2:179415895;179415894;179415893 |
| N2B | 21390 | 64393;64394;64395 | chr2:178551168;178551167;178551166 | chr2:179415895;179415894;179415893 |
| Novex-1 | 21515 | 64768;64769;64770 | chr2:178551168;178551167;178551166 | chr2:179415895;179415894;179415893 |
| Novex-2 | 21582 | 64969;64970;64971 | chr2:178551168;178551167;178551166 | chr2:179415895;179415894;179415893 |
| 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 | rs1281249484  |
-1.052 | 0.999 | N | 0.601 | 0.289 | 0.5073929853 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/A | rs1281249484 |
-1.052 | 0.999 | N | 0.601 | 0.289 | 0.5073929853 | 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 |
| V/A | rs1281249484 |
-1.052 | 0.999 | N | 0.601 | 0.289 | 0.5073929853 | gnomAD-4.0.0 | 2.4791E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39075E-06 | 0 | 0 |
| V/M | rs766444853 |
-0.305 | 1.0 | N | 0.719 | 0.314 | 0.470730462751 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/M | rs766444853 |
-0.305 | 1.0 | N | 0.719 | 0.314 | 0.470730462751 | gnomAD-4.0.0 | 4.79007E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73491E-04 | 4.49779E-06 | 0 | 1.65667E-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 | 0.23 | likely_benign | 0.2332 | benign | -0.874 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.488350683 | None | None | I |
| V/C | 0.8177 | likely_pathogenic | 0.8207 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| V/D | 0.829 | likely_pathogenic | 0.8574 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| V/E | 0.7194 | likely_pathogenic | 0.7565 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.472650512 | None | None | I |
| V/F | 0.3903 | ambiguous | 0.4 | ambiguous | -0.844 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| V/G | 0.4639 | ambiguous | 0.4812 | ambiguous | -1.079 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.515153282 | None | None | I |
| V/H | 0.8489 | likely_pathogenic | 0.8643 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| V/I | 0.0824 | likely_benign | 0.0847 | benign | -0.46 | Destabilizing | 0.998 | D | 0.515 | neutral | None | None | None | None | I |
| V/K | 0.7498 | likely_pathogenic | 0.7864 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| V/L | 0.3188 | likely_benign | 0.3332 | benign | -0.46 | Destabilizing | 0.997 | D | 0.569 | neutral | N | 0.432534685 | None | None | I |
| V/M | 0.2187 | likely_benign | 0.2286 | benign | -0.413 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.510304823 | None | None | I |
| V/N | 0.5944 | likely_pathogenic | 0.6266 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| V/P | 0.9181 | likely_pathogenic | 0.9231 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| V/Q | 0.6224 | likely_pathogenic | 0.6515 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| V/R | 0.6504 | likely_pathogenic | 0.6874 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| V/S | 0.3115 | likely_benign | 0.325 | benign | -0.822 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| V/T | 0.1293 | likely_benign | 0.1351 | benign | -0.795 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | I |
| V/W | 0.935 | likely_pathogenic | 0.9419 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| V/Y | 0.8323 | likely_pathogenic | 0.8444 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.845 | 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.