Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3952 | 12079;12080;12081 | chr2:178741379;178741378;178741377 | chr2:179606106;179606105;179606104 |
| N2AB | 3635 | 11128;11129;11130 | chr2:178741379;178741378;178741377 | chr2:179606106;179606105;179606104 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3589 | 10990;10991;10992 | chr2:178741379;178741378;178741377 | chr2:179606106;179606105;179606104 |
| Novex-1 | 3714 | 11365;11366;11367 | chr2:178741379;178741378;178741377 | chr2:179606106;179606105;179606104 |
| Novex-2 | 3781 | 11566;11567;11568 | chr2:178741379;178741378;178741377 | chr2:179606106;179606105;179606104 |
| 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/E | rs779033634  |
-1.583 | 0.999 | D | 0.852 | 0.576 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 1.93849E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs779033634 |
-1.583 | 0.999 | D | 0.852 | 0.576 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 1.44858E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| G/E | rs779033634 |
-1.583 | 0.999 | D | 0.852 | 0.576 | None | gnomAD-4.0.0 | 6.81663E-06 | None | None | None | None | I | None | 1.33526E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60108E-05 |
| G/R | rs772014276 |
-0.814 | 0.999 | D | 0.856 | 0.646 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/R | rs772014276 |
-0.814 | 0.999 | D | 0.856 | 0.646 | None | gnomAD-4.0.0 | 1.59109E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02407E-05 |
| G/V | rs779033634 |
-0.571 | 0.999 | D | 0.85 | 0.594 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/V | rs779033634 |
-0.571 | 0.999 | D | 0.85 | 0.594 | None | gnomAD-4.0.0 | 2.05253E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6983E-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 | 0.3793 | ambiguous | 0.3683 | ambiguous | -0.634 | Destabilizing | 0.991 | D | 0.683 | prob.neutral | D | 0.722244349 | None | None | I |
| G/C | 0.4599 | ambiguous | 0.4982 | ambiguous | -0.887 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/D | 0.3589 | ambiguous | 0.4068 | ambiguous | -1.307 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | I |
| G/E | 0.4002 | ambiguous | 0.4342 | ambiguous | -1.461 | Destabilizing | 0.999 | D | 0.852 | deleterious | D | 0.677276356 | None | None | I |
| G/F | 0.7937 | likely_pathogenic | 0.8026 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/H | 0.6023 | likely_pathogenic | 0.6282 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/I | 0.7217 | likely_pathogenic | 0.7334 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/K | 0.6252 | likely_pathogenic | 0.6496 | pathogenic | -1.283 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | I |
| G/L | 0.7692 | likely_pathogenic | 0.7643 | pathogenic | -0.64 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | I |
| G/M | 0.7891 | likely_pathogenic | 0.7833 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/N | 0.4224 | ambiguous | 0.4322 | ambiguous | -0.844 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | I |
| G/P | 0.9694 | likely_pathogenic | 0.9714 | pathogenic | -0.603 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | I |
| G/Q | 0.5654 | likely_pathogenic | 0.5777 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/R | 0.5128 | ambiguous | 0.5522 | ambiguous | -0.723 | Destabilizing | 0.999 | D | 0.856 | deleterious | D | 0.73430476 | None | None | I |
| G/S | 0.2279 | likely_benign | 0.2297 | benign | -0.939 | Destabilizing | 0.896 | D | 0.57 | neutral | None | None | None | None | I |
| G/T | 0.516 | ambiguous | 0.4988 | ambiguous | -1.042 | Destabilizing | 0.998 | D | 0.852 | deleterious | None | None | None | None | I |
| G/V | 0.5963 | likely_pathogenic | 0.6136 | pathogenic | -0.603 | Destabilizing | 0.999 | D | 0.85 | deleterious | D | 0.733973586 | None | None | I |
| G/W | 0.6662 | likely_pathogenic | 0.7078 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.803699661 | None | None | I |
| G/Y | 0.6039 | likely_pathogenic | 0.6336 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.866 | 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.