Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29764 | 89515;89516;89517 | chr2:178553715;178553714;178553713 | chr2:179418442;179418441;179418440 |
| N2AB | 28123 | 84592;84593;84594 | chr2:178553715;178553714;178553713 | chr2:179418442;179418441;179418440 |
| N2A | 27196 | 81811;81812;81813 | chr2:178553715;178553714;178553713 | chr2:179418442;179418441;179418440 |
| N2B | 20699 | 62320;62321;62322 | chr2:178553715;178553714;178553713 | chr2:179418442;179418441;179418440 |
| Novex-1 | 20824 | 62695;62696;62697 | chr2:178553715;178553714;178553713 | chr2:179418442;179418441;179418440 |
| Novex-2 | 20891 | 62896;62897;62898 | chr2:178553715;178553714;178553713 | chr2:179418442;179418441;179418440 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs777230019  |
-0.762 | 0.999 | N | 0.589 | 0.3 | 0.260735089382 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| S/G | rs777230019 |
-0.762 | 0.999 | N | 0.589 | 0.3 | 0.260735089382 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/G | rs777230019 |
-0.762 | 0.999 | N | 0.589 | 0.3 | 0.260735089382 | gnomAD-4.0.0 | 1.36333E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69527E-05 | 0 | 3.20205E-05 |
| S/N | None | None | 0.999 | N | 0.739 | 0.281 | 0.304108284078 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8585E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1305 | likely_benign | 0.1271 | benign | -0.382 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | I |
| S/C | 0.1341 | likely_benign | 0.1354 | benign | -0.141 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.51375056 | None | None | I |
| S/D | 0.8595 | likely_pathogenic | 0.8687 | pathogenic | -0.346 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | I |
| S/E | 0.8835 | likely_pathogenic | 0.9031 | pathogenic | -0.445 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | I |
| S/F | 0.5594 | ambiguous | 0.5548 | ambiguous | -1.029 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| S/G | 0.1717 | likely_benign | 0.1703 | benign | -0.488 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.498890177 | None | None | I |
| S/H | 0.7537 | likely_pathogenic | 0.7662 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| S/I | 0.637 | likely_pathogenic | 0.6385 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.480157877 | None | None | I |
| S/K | 0.9491 | likely_pathogenic | 0.9562 | pathogenic | -0.509 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | I |
| S/L | 0.2341 | likely_benign | 0.2169 | benign | -0.229 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| S/M | 0.3751 | ambiguous | 0.3765 | ambiguous | 0.253 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| S/N | 0.5329 | ambiguous | 0.538 | ambiguous | -0.233 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | N | 0.478512036 | None | None | I |
| S/P | 0.9854 | likely_pathogenic | 0.9882 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| S/Q | 0.8169 | likely_pathogenic | 0.8376 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| S/R | 0.927 | likely_pathogenic | 0.9317 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.471382011 | None | None | I |
| S/T | 0.2667 | likely_benign | 0.2695 | benign | -0.296 | Destabilizing | 0.999 | D | 0.596 | neutral | N | 0.511902333 | None | None | I |
| S/V | 0.5249 | ambiguous | 0.5506 | ambiguous | -0.252 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| S/W | 0.7833 | likely_pathogenic | 0.7778 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| S/Y | 0.5294 | ambiguous | 0.5371 | ambiguous | -0.752 | Destabilizing | 1.0 | D | 0.821 | 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.