Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31766 | 95521;95522;95523 | chr2:178545940;178545939;178545938 | chr2:179410667;179410666;179410665 |
| N2AB | 30125 | 90598;90599;90600 | chr2:178545940;178545939;178545938 | chr2:179410667;179410666;179410665 |
| N2A | 29198 | 87817;87818;87819 | chr2:178545940;178545939;178545938 | chr2:179410667;179410666;179410665 |
| N2B | 22701 | 68326;68327;68328 | chr2:178545940;178545939;178545938 | chr2:179410667;179410666;179410665 |
| Novex-1 | 22826 | 68701;68702;68703 | chr2:178545940;178545939;178545938 | chr2:179410667;179410666;179410665 |
| Novex-2 | 22893 | 68902;68903;68904 | chr2:178545940;178545939;178545938 | chr2:179410667;179410666;179410665 |
| 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/F | rs191484894  |
-0.632 | 1.0 | N | 0.863 | 0.466 | None | gnomAD-2.1.1 | 3.38793E-03 | None | None | None | None | N | None | 2.0656E-04 | 7.63877E-04 | None | 1.06465E-03 | 1.02554E-04 | None | 2.16979E-02 | None | 4E-05 | 1.70344E-03 | 2.94695E-03 |
| S/F | rs191484894 |
-0.632 | 1.0 | N | 0.863 | 0.466 | None | gnomAD-3.1.2 | 1.77438E-03 | None | None | None | None | N | None | 2.41266E-04 | 1.83414E-03 | 0 | 8.64055E-04 | 0 | None | 0 | 0 | 1.66093E-03 | 2.3198E-02 | 1.91388E-03 |
| S/F | rs191484894 |
-0.632 | 1.0 | N | 0.863 | 0.466 | None | 1000 genomes | 5.99042E-03 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 2E-03 | None | None | None | 2.76E-02 | None |
| S/F | rs191484894 |
-0.632 | 1.0 | N | 0.863 | 0.466 | None | gnomAD-4.0.0 | 2.17057E-03 | None | None | None | None | N | None | 3.19838E-04 | 9.83301E-04 | None | 8.44538E-04 | 1.56048E-04 | None | 6.24785E-05 | 4.12405E-03 | 1.05695E-03 | 2.11787E-02 | 2.92903E-03 |
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 | 0.114 | likely_benign | 0.1146 | benign | -0.492 | Destabilizing | 0.997 | D | 0.475 | neutral | N | 0.520215172 | None | None | N |
| S/C | 0.1468 | likely_benign | 0.1339 | benign | -0.298 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.50082348 | None | None | N |
| S/D | 0.6536 | likely_pathogenic | 0.7209 | pathogenic | 0.217 | Stabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| S/E | 0.7289 | likely_pathogenic | 0.7831 | pathogenic | 0.247 | Stabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| S/F | 0.3409 | ambiguous | 0.3462 | ambiguous | -0.708 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.488453217 | None | None | N |
| S/G | 0.1335 | likely_benign | 0.1377 | benign | -0.753 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| S/H | 0.4323 | ambiguous | 0.473 | ambiguous | -1.114 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| S/I | 0.3316 | likely_benign | 0.3462 | ambiguous | 0.096 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| S/K | 0.8363 | likely_pathogenic | 0.8796 | pathogenic | -0.306 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| S/L | 0.1805 | likely_benign | 0.1825 | benign | 0.096 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| S/M | 0.264 | likely_benign | 0.2662 | benign | 0.03 | Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| S/N | 0.2082 | likely_benign | 0.2292 | benign | -0.375 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| S/P | 0.8598 | likely_pathogenic | 0.866 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.499809522 | None | None | N |
| S/Q | 0.5731 | likely_pathogenic | 0.6183 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| S/R | 0.771 | likely_pathogenic | 0.8197 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| S/T | 0.0948 | likely_benign | 0.0998 | benign | -0.355 | Destabilizing | 0.999 | D | 0.526 | neutral | N | 0.438039293 | None | None | N |
| S/V | 0.2913 | likely_benign | 0.2988 | benign | -0.065 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| S/W | 0.5162 | ambiguous | 0.5324 | ambiguous | -0.79 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| S/Y | 0.2876 | likely_benign | 0.2867 | benign | -0.443 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.526103781 | 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.