Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15545 | 46858;46859;46860 | chr2:178619684;178619683;178619682 | chr2:179484411;179484410;179484409 |
| N2AB | 13904 | 41935;41936;41937 | chr2:178619684;178619683;178619682 | chr2:179484411;179484410;179484409 |
| N2A | 12977 | 39154;39155;39156 | chr2:178619684;178619683;178619682 | chr2:179484411;179484410;179484409 |
| N2B | 6480 | 19663;19664;19665 | chr2:178619684;178619683;178619682 | chr2:179484411;179484410;179484409 |
| Novex-1 | 6605 | 20038;20039;20040 | chr2:178619684;178619683;178619682 | chr2:179484411;179484410;179484409 |
| Novex-2 | 6672 | 20239;20240;20241 | chr2:178619684;178619683;178619682 | chr2:179484411;179484410;179484409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | D | 0.573 | 0.668 | 0.790128647075 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.983 | likely_pathogenic | 0.9842 | pathogenic | 0.351 | Stabilizing | 1.0 | D | 0.863 | deleterious | D | 0.66022293 | None | None | N |
| D/C | 0.9878 | likely_pathogenic | 0.9876 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/E | 0.8991 | likely_pathogenic | 0.9026 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.573 | neutral | D | 0.583096873 | None | None | N |
| D/F | 0.9888 | likely_pathogenic | 0.9881 | pathogenic | 0.904 | Stabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| D/G | 0.9829 | likely_pathogenic | 0.9831 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.659521983 | None | None | N |
| D/H | 0.9561 | likely_pathogenic | 0.9463 | pathogenic | 0.33 | Stabilizing | 1.0 | D | 0.864 | deleterious | D | 0.659626875 | None | None | N |
| D/I | 0.9944 | likely_pathogenic | 0.9942 | pathogenic | 1.614 | Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| D/K | 0.9944 | likely_pathogenic | 0.9928 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/L | 0.9892 | likely_pathogenic | 0.9898 | pathogenic | 1.614 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/M | 0.9956 | likely_pathogenic | 0.9954 | pathogenic | 2.052 | Highly Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/N | 0.9127 | likely_pathogenic | 0.9141 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.661478996 | None | None | N |
| D/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | 1.223 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/Q | 0.9834 | likely_pathogenic | 0.9807 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/R | 0.9951 | likely_pathogenic | 0.9939 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| D/S | 0.9663 | likely_pathogenic | 0.9682 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/T | 0.9932 | likely_pathogenic | 0.9934 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| D/V | 0.9851 | likely_pathogenic | 0.9853 | pathogenic | 1.223 | Stabilizing | 1.0 | D | 0.866 | deleterious | D | 0.659575075 | None | None | N |
| D/W | 0.9969 | likely_pathogenic | 0.9966 | pathogenic | 0.761 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/Y | 0.924 | likely_pathogenic | 0.9209 | pathogenic | 1.062 | Stabilizing | 1.0 | D | 0.876 | deleterious | D | 0.659626875 | 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.