Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4018 | 12277;12278;12279 | chr2:178741181;178741180;178741179 | chr2:179605908;179605907;179605906 |
| N2AB | 3701 | 11326;11327;11328 | chr2:178741181;178741180;178741179 | chr2:179605908;179605907;179605906 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3655 | 11188;11189;11190 | chr2:178741181;178741180;178741179 | chr2:179605908;179605907;179605906 |
| Novex-1 | 3780 | 11563;11564;11565 | chr2:178741181;178741180;178741179 | chr2:179605908;179605907;179605906 |
| Novex-2 | 3847 | 11764;11765;11766 | chr2:178741181;178741180;178741179 | chr2:179605908;179605907;179605906 |
| 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/D | None | None | 1.0 | D | 0.859 | 0.593 | 0.168933306366 | gnomAD-4.0.0 | 2.73761E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79886E-06 | 2.31868E-05 | 0 |
| G/S | rs759214389  |
-0.608 | 1.0 | D | 0.804 | 0.604 | 0.126345400529 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs759214389 |
-0.608 | 1.0 | D | 0.804 | 0.604 | 0.126345400529 | gnomAD-4.0.0 | 4.77748E-06 | None | None | None | None | I | None | 0 | 6.85965E-05 | 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 | 0.6679 | likely_pathogenic | 0.5663 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.774420591 | None | None | I |
| G/C | 0.8789 | likely_pathogenic | 0.803 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.84149589 | None | None | I |
| G/D | 0.8839 | likely_pathogenic | 0.808 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.737129822 | None | None | I |
| G/E | 0.8841 | likely_pathogenic | 0.7937 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/F | 0.9766 | likely_pathogenic | 0.9574 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/H | 0.9702 | likely_pathogenic | 0.9471 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9731 | likely_pathogenic | 0.9489 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/K | 0.9594 | likely_pathogenic | 0.9257 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/L | 0.9623 | likely_pathogenic | 0.9305 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/M | 0.9772 | likely_pathogenic | 0.957 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/N | 0.9426 | likely_pathogenic | 0.9011 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/P | 0.9953 | likely_pathogenic | 0.9913 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/Q | 0.9351 | likely_pathogenic | 0.8833 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/R | 0.8992 | likely_pathogenic | 0.8313 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.789021906 | None | None | I |
| G/S | 0.5821 | likely_pathogenic | 0.507 | ambiguous | -0.797 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.721655432 | None | None | I |
| G/T | 0.8905 | likely_pathogenic | 0.8254 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/V | 0.9362 | likely_pathogenic | 0.8842 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.842548789 | None | None | I |
| G/W | 0.9369 | likely_pathogenic | 0.8918 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Y | 0.96 | likely_pathogenic | 0.9268 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.842 | 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.