Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20697 | 62314;62315;62316 | chr2:178589636;178589635;178589634 | chr2:179454363;179454362;179454361 |
| N2AB | 19056 | 57391;57392;57393 | chr2:178589636;178589635;178589634 | chr2:179454363;179454362;179454361 |
| N2A | 18129 | 54610;54611;54612 | chr2:178589636;178589635;178589634 | chr2:179454363;179454362;179454361 |
| N2B | 11632 | 35119;35120;35121 | chr2:178589636;178589635;178589634 | chr2:179454363;179454362;179454361 |
| Novex-1 | 11757 | 35494;35495;35496 | chr2:178589636;178589635;178589634 | chr2:179454363;179454362;179454361 |
| Novex-2 | 11824 | 35695;35696;35697 | chr2:178589636;178589635;178589634 | chr2:179454363;179454362;179454361 |
| 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/S | rs889345827  |
None | 1.0 | N | 0.708 | 0.464 | 0.410337123052 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs889345827 |
None | 1.0 | N | 0.708 | 0.464 | 0.410337123052 | gnomAD-4.0.0 | 6.57505E-06 | None | None | None | None | I | None | 0 | 6.55394E-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 | 0.9573 | likely_pathogenic | 0.9127 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.496716239 | None | None | I |
| G/C | 0.9841 | likely_pathogenic | 0.9568 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.537737369 | None | None | I |
| G/D | 0.9926 | likely_pathogenic | 0.9835 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.525202521 | None | None | I |
| G/E | 0.9956 | likely_pathogenic | 0.9898 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/F | 0.9946 | likely_pathogenic | 0.9912 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/H | 0.9966 | likely_pathogenic | 0.9934 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/I | 0.995 | likely_pathogenic | 0.9879 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/K | 0.9963 | likely_pathogenic | 0.9926 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/L | 0.9926 | likely_pathogenic | 0.9861 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/M | 0.9964 | likely_pathogenic | 0.9925 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.9864 | likely_pathogenic | 0.9732 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Q | 0.9941 | likely_pathogenic | 0.9881 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/R | 0.9907 | likely_pathogenic | 0.982 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.53723039 | None | None | I |
| G/S | 0.947 | likely_pathogenic | 0.8891 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.509718386 | None | None | I |
| G/T | 0.9891 | likely_pathogenic | 0.9786 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/V | 0.9923 | likely_pathogenic | 0.9814 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.52621648 | None | None | I |
| G/W | 0.9956 | likely_pathogenic | 0.9918 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/Y | 0.9946 | likely_pathogenic | 0.9905 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.786 | 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.