Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24659 | 74200;74201;74202 | chr2:178572157;178572156;178572155 | chr2:179436884;179436883;179436882 |
| N2AB | 23018 | 69277;69278;69279 | chr2:178572157;178572156;178572155 | chr2:179436884;179436883;179436882 |
| N2A | 22091 | 66496;66497;66498 | chr2:178572157;178572156;178572155 | chr2:179436884;179436883;179436882 |
| N2B | 15594 | 47005;47006;47007 | chr2:178572157;178572156;178572155 | chr2:179436884;179436883;179436882 |
| Novex-1 | 15719 | 47380;47381;47382 | chr2:178572157;178572156;178572155 | chr2:179436884;179436883;179436882 |
| Novex-2 | 15786 | 47581;47582;47583 | chr2:178572157;178572156;178572155 | chr2:179436884;179436883;179436882 |
| 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/A | rs548189007  |
-0.135 | 0.994 | N | 0.488 | 0.296 | 0.292787519742 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/A | rs548189007 |
-0.135 | 0.994 | N | 0.488 | 0.296 | 0.292787519742 | gnomAD-4.0.0 | 1.16342E-05 | None | None | None | None | N | None | 2.39106E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47858E-05 | 9.94365E-05 |
| G/S | rs776423108 |
-0.408 | 0.987 | N | 0.493 | 0.298 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.94099E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs776423108 |
-0.408 | 0.987 | N | 0.493 | 0.298 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs776423108 |
-0.408 | 0.987 | N | 0.493 | 0.298 | None | gnomAD-4.0.0 | 1.97213E-05 | None | None | None | None | N | None | 7.23833E-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 | 0.272 | likely_benign | 0.2158 | benign | -0.269 | Destabilizing | 0.994 | D | 0.488 | neutral | N | 0.475918369 | None | None | N |
| G/C | 0.4463 | ambiguous | 0.3729 | ambiguous | -0.942 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.521534628 | None | None | N |
| G/D | 0.2316 | likely_benign | 0.1859 | benign | -0.587 | Destabilizing | 0.548 | D | 0.349 | neutral | N | 0.497586242 | None | None | N |
| G/E | 0.378 | ambiguous | 0.3201 | benign | -0.744 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
| G/F | 0.7774 | likely_pathogenic | 0.6882 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/H | 0.5801 | likely_pathogenic | 0.5182 | ambiguous | -0.36 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/I | 0.5533 | ambiguous | 0.443 | ambiguous | -0.535 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/K | 0.7516 | likely_pathogenic | 0.6961 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| G/L | 0.7047 | likely_pathogenic | 0.6114 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/M | 0.709 | likely_pathogenic | 0.6151 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/N | 0.259 | likely_benign | 0.2215 | benign | -0.334 | Destabilizing | 0.948 | D | 0.361 | neutral | None | None | None | None | N |
| G/P | 0.951 | likely_pathogenic | 0.9231 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/Q | 0.5704 | likely_pathogenic | 0.5034 | ambiguous | -0.597 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| G/R | 0.6876 | likely_pathogenic | 0.6208 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.4769551 | None | None | N |
| G/S | 0.149 | likely_benign | 0.1237 | benign | -0.476 | Destabilizing | 0.987 | D | 0.493 | neutral | N | 0.498973108 | None | None | N |
| G/T | 0.2723 | likely_benign | 0.217 | benign | -0.57 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| G/V | 0.4154 | ambiguous | 0.3158 | benign | -0.423 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.482501735 | None | None | N |
| G/W | 0.6858 | likely_pathogenic | 0.6044 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/Y | 0.6083 | likely_pathogenic | 0.5258 | ambiguous | -0.834 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | 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.