Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23785 | 71578;71579;71580 | chr2:178574779;178574778;178574777 | chr2:179439506;179439505;179439504 |
| N2AB | 22144 | 66655;66656;66657 | chr2:178574779;178574778;178574777 | chr2:179439506;179439505;179439504 |
| N2A | 21217 | 63874;63875;63876 | chr2:178574779;178574778;178574777 | chr2:179439506;179439505;179439504 |
| N2B | 14720 | 44383;44384;44385 | chr2:178574779;178574778;178574777 | chr2:179439506;179439505;179439504 |
| Novex-1 | 14845 | 44758;44759;44760 | chr2:178574779;178574778;178574777 | chr2:179439506;179439505;179439504 |
| Novex-2 | 14912 | 44959;44960;44961 | chr2:178574779;178574778;178574777 | chr2:179439506;179439505;179439504 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs765937279  |
-0.916 | 0.999 | N | 0.527 | 0.327 | 0.371344866733 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| T/A | rs765937279 |
-0.916 | 0.999 | N | 0.527 | 0.327 | 0.371344866733 | gnomAD-4.0.0 | 6.38048E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14609E-05 | 0 | 0 |
| T/I | None | None | 1.0 | N | 0.769 | 0.389 | 0.466571191598 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1017 | likely_benign | 0.1017 | benign | -0.933 | Destabilizing | 0.999 | D | 0.527 | neutral | N | 0.509400746 | None | None | N |
| T/C | 0.3652 | ambiguous | 0.4123 | ambiguous | -0.425 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| T/D | 0.6829 | likely_pathogenic | 0.7159 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/E | 0.533 | ambiguous | 0.5796 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| T/F | 0.3195 | likely_benign | 0.3615 | ambiguous | -0.758 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| T/G | 0.3 | likely_benign | 0.2985 | benign | -1.326 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/H | 0.3152 | likely_benign | 0.3323 | benign | -1.456 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| T/I | 0.1947 | likely_benign | 0.2421 | benign | 0.078 | Stabilizing | 1.0 | D | 0.769 | deleterious | N | 0.518252302 | None | None | N |
| T/K | 0.3353 | likely_benign | 0.3533 | ambiguous | -0.231 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| T/L | 0.1286 | likely_benign | 0.1609 | benign | 0.078 | Stabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| T/M | 0.0889 | likely_benign | 0.0985 | benign | 0.086 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/N | 0.1681 | likely_benign | 0.173 | benign | -0.737 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.500146544 | None | None | N |
| T/P | 0.8667 | likely_pathogenic | 0.8501 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.471448144 | None | None | N |
| T/Q | 0.2824 | likely_benign | 0.2885 | benign | -0.565 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| T/R | 0.2928 | likely_benign | 0.3016 | benign | -0.404 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| T/S | 0.1095 | likely_benign | 0.1104 | benign | -1.048 | Destabilizing | 0.999 | D | 0.503 | neutral | N | 0.459238497 | None | None | N |
| T/V | 0.1366 | likely_benign | 0.1585 | benign | -0.226 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| T/W | 0.7249 | likely_pathogenic | 0.7572 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/Y | 0.3886 | ambiguous | 0.4205 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.827 | deleterious | 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.