Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15547 | 46864;46865;46866 | chr2:178619678;178619677;178619676 | chr2:179484405;179484404;179484403 |
| N2AB | 13906 | 41941;41942;41943 | chr2:178619678;178619677;178619676 | chr2:179484405;179484404;179484403 |
| N2A | 12979 | 39160;39161;39162 | chr2:178619678;178619677;178619676 | chr2:179484405;179484404;179484403 |
| N2B | 6482 | 19669;19670;19671 | chr2:178619678;178619677;178619676 | chr2:179484405;179484404;179484403 |
| Novex-1 | 6607 | 20044;20045;20046 | chr2:178619678;178619677;178619676 | chr2:179484405;179484404;179484403 |
| Novex-2 | 6674 | 20245;20246;20247 | chr2:178619678;178619677;178619676 | chr2:179484405;179484404;179484403 |
| 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 | 0.809 | 0.817 | 0.619865016221 | gnomAD-4.0.0 | 2.05445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80024E-06 | 1.16023E-05 | 0 |
| G/R | rs769290450  |
None | 1.0 | D | 0.787 | 0.818 | 0.763078722514 | gnomAD-4.0.0 | 6.84818E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00105E-07 | 0 | 0 |
| G/S | rs769290450 |
-1.032 | 1.0 | D | 0.841 | 0.818 | 0.564579235405 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/S | rs769290450 |
-1.032 | 1.0 | D | 0.841 | 0.818 | 0.564579235405 | gnomAD-4.0.0 | 3.42409E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50052E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7025 | likely_pathogenic | 0.7545 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.632718931 | None | None | N |
| G/C | 0.9464 | likely_pathogenic | 0.9573 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | D | 0.669449692 | None | None | N |
| G/D | 0.9495 | likely_pathogenic | 0.9634 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.670973214 | None | None | N |
| G/E | 0.9745 | likely_pathogenic | 0.9802 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/F | 0.9935 | likely_pathogenic | 0.9949 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/H | 0.9951 | likely_pathogenic | 0.9964 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/I | 0.9909 | likely_pathogenic | 0.9937 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/K | 0.9939 | likely_pathogenic | 0.995 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/L | 0.9871 | likely_pathogenic | 0.9912 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/M | 0.9908 | likely_pathogenic | 0.9943 | pathogenic | -0.078 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/N | 0.9789 | likely_pathogenic | 0.9876 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/Q | 0.9841 | likely_pathogenic | 0.9882 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/R | 0.9855 | likely_pathogenic | 0.9876 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.669655722 | None | None | N |
| G/S | 0.7728 | likely_pathogenic | 0.8362 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.632007258 | None | None | N |
| G/T | 0.9588 | likely_pathogenic | 0.9723 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/V | 0.9735 | likely_pathogenic | 0.9805 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.669655722 | None | None | N |
| G/W | 0.9905 | likely_pathogenic | 0.9918 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9919 | likely_pathogenic | 0.994 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.735 | 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.