Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25689 | 77290;77291;77292 | chr2:178569067;178569066;178569065 | chr2:179433794;179433793;179433792 |
| N2AB | 24048 | 72367;72368;72369 | chr2:178569067;178569066;178569065 | chr2:179433794;179433793;179433792 |
| N2A | 23121 | 69586;69587;69588 | chr2:178569067;178569066;178569065 | chr2:179433794;179433793;179433792 |
| N2B | 16624 | 50095;50096;50097 | chr2:178569067;178569066;178569065 | chr2:179433794;179433793;179433792 |
| Novex-1 | 16749 | 50470;50471;50472 | chr2:178569067;178569066;178569065 | chr2:179433794;179433793;179433792 |
| Novex-2 | 16816 | 50671;50672;50673 | chr2:178569067;178569066;178569065 | chr2:179433794;179433793;179433792 |
| 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 | rs1360848714  |
-1.078 | 0.565 | N | 0.541 | 0.286 | 0.17258766438 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1360848714 |
-1.078 | 0.565 | N | 0.541 | 0.286 | 0.17258766438 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs1360848714 |
-1.078 | 0.565 | N | 0.541 | 0.286 | 0.17258766438 | gnomAD-4.0.0 | 2.47952E-06 | None | None | None | None | N | None | 4.00652E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47774E-07 | 0 | 0 |
| T/I | None | None | 0.055 | N | 0.439 | 0.201 | 0.265010934533 | gnomAD-4.0.0 | 1.36877E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99628E-07 | 1.15993E-05 | 0 |
| T/N | rs369081503 |
-0.809 | 0.989 | N | 0.683 | 0.286 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/N | rs369081503 |
-0.809 | 0.989 | N | 0.683 | 0.286 | None | gnomAD-4.0.0 | 1.02658E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16952E-05 | 0 | 3.314E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2542 | likely_benign | 0.2274 | benign | -0.95 | Destabilizing | 0.565 | D | 0.541 | neutral | N | 0.470084429 | None | None | N |
| T/C | 0.6704 | likely_pathogenic | 0.6639 | pathogenic | -0.501 | Destabilizing | 0.999 | D | 0.707 | prob.delet. | None | None | None | None | N |
| T/D | 0.8939 | likely_pathogenic | 0.8815 | pathogenic | -0.524 | Destabilizing | 0.991 | D | 0.7 | prob.delet. | None | None | None | None | N |
| T/E | 0.8581 | likely_pathogenic | 0.8274 | pathogenic | -0.405 | Destabilizing | 0.997 | D | 0.695 | prob.delet. | None | None | None | None | N |
| T/F | 0.6528 | likely_pathogenic | 0.66 | pathogenic | -0.594 | Destabilizing | 0.996 | D | 0.798 | deleterious | None | None | None | None | N |
| T/G | 0.6108 | likely_pathogenic | 0.6 | pathogenic | -1.33 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/H | 0.7974 | likely_pathogenic | 0.7894 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| T/I | 0.3201 | likely_benign | 0.2767 | benign | 0.015 | Stabilizing | 0.055 | N | 0.439 | neutral | N | 0.50554679 | None | None | N |
| T/K | 0.8529 | likely_pathogenic | 0.8275 | pathogenic | -0.609 | Destabilizing | 0.994 | D | 0.699 | prob.delet. | None | None | None | None | N |
| T/L | 0.1549 | likely_benign | 0.1388 | benign | 0.015 | Stabilizing | 0.836 | D | 0.54 | neutral | None | None | None | None | N |
| T/M | 0.1301 | likely_benign | 0.125 | benign | 0.091 | Stabilizing | 0.997 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/N | 0.4625 | ambiguous | 0.4272 | ambiguous | -0.871 | Destabilizing | 0.989 | D | 0.683 | prob.neutral | N | 0.48418944 | None | None | N |
| T/P | 0.5493 | ambiguous | 0.5423 | ambiguous | -0.273 | Destabilizing | 0.989 | D | 0.722 | deleterious | N | 0.499484822 | None | None | N |
| T/Q | 0.7759 | likely_pathogenic | 0.7482 | pathogenic | -0.789 | Destabilizing | 0.996 | D | 0.692 | prob.delet. | None | None | None | None | N |
| T/R | 0.8377 | likely_pathogenic | 0.8148 | pathogenic | -0.65 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/S | 0.2904 | likely_benign | 0.2896 | benign | -1.182 | Destabilizing | 0.725 | D | 0.58 | neutral | N | 0.469172603 | None | None | N |
| T/V | 0.2578 | likely_benign | 0.2301 | benign | -0.273 | Destabilizing | 0.785 | D | 0.522 | neutral | None | None | None | None | N |
| T/W | 0.9313 | likely_pathogenic | 0.934 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.738 | deleterious | None | None | None | None | N |
| T/Y | 0.7976 | likely_pathogenic | 0.7827 | pathogenic | -0.338 | Destabilizing | 0.999 | D | 0.792 | 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.