Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3123 | 9592;9593;9594 | chr2:178767863;178767862;178767861 | chr2:179632590;179632589;179632588 |
| N2AB | 3123 | 9592;9593;9594 | chr2:178767863;178767862;178767861 | chr2:179632590;179632589;179632588 |
| N2A | 3123 | 9592;9593;9594 | chr2:178767863;178767862;178767861 | chr2:179632590;179632589;179632588 |
| N2B | 3077 | 9454;9455;9456 | chr2:178767863;178767862;178767861 | chr2:179632590;179632589;179632588 |
| Novex-1 | 3077 | 9454;9455;9456 | chr2:178767863;178767862;178767861 | chr2:179632590;179632589;179632588 |
| Novex-2 | 3077 | 9454;9455;9456 | chr2:178767863;178767862;178767861 | chr2:179632590;179632589;179632588 |
| Novex-3 | 3123 | 9592;9593;9594 | chr2:178767863;178767862;178767861 | chr2:179632590;179632589;179632588 |
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 | rs397517785  |
-0.5 | 1.0 | D | 0.589 | 0.59 | 0.471052466308 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 1.63345E-04 |
| D/E | rs397517785 |
-0.5 | 1.0 | D | 0.589 | 0.59 | 0.471052466308 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| D/E | rs397517785 |
-0.5 | 1.0 | D | 0.589 | 0.59 | 0.471052466308 | gnomAD-4.0.0 | 1.02445E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.37961E-05 | 2.8422E-05 |
| D/N | rs1213706471 |
-0.638 | 1.0 | D | 0.764 | 0.654 | 0.633120732306 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| D/N | rs1213706471 |
-0.638 | 1.0 | D | 0.764 | 0.654 | 0.633120732306 | gnomAD-4.0.0 | 1.59056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85652E-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 | 0.9899 | likely_pathogenic | 0.9913 | pathogenic | 0.007 | Stabilizing | 1.0 | D | 0.829 | deleterious | D | 0.816707643 | None | None | N |
| D/C | 0.9968 | likely_pathogenic | 0.9978 | pathogenic | 0.071 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/E | 0.9513 | likely_pathogenic | 0.9634 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.589 | neutral | D | 0.817919266 | None | None | N |
| D/F | 0.998 | likely_pathogenic | 0.9983 | pathogenic | 0.685 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/G | 0.9949 | likely_pathogenic | 0.9951 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.815917673 | None | None | N |
| D/H | 0.9844 | likely_pathogenic | 0.9915 | pathogenic | 0.351 | Stabilizing | 1.0 | D | 0.781 | deleterious | D | 0.68444593 | None | None | N |
| D/I | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | 1.182 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/K | 0.9971 | likely_pathogenic | 0.998 | pathogenic | 0.055 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/L | 0.9962 | likely_pathogenic | 0.9969 | pathogenic | 1.182 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/M | 0.9986 | likely_pathogenic | 0.999 | pathogenic | 1.569 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/N | 0.9419 | likely_pathogenic | 0.9577 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.749165361 | None | None | N |
| D/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | 0.819 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/Q | 0.9941 | likely_pathogenic | 0.9958 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/R | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/S | 0.9752 | likely_pathogenic | 0.9817 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/T | 0.9955 | likely_pathogenic | 0.9967 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/V | 0.9929 | likely_pathogenic | 0.9942 | pathogenic | 0.819 | Stabilizing | 1.0 | D | 0.81 | deleterious | D | 0.815879635 | None | None | N |
| D/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | 0.836 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| D/Y | 0.9849 | likely_pathogenic | 0.9881 | pathogenic | 0.968 | Stabilizing | 1.0 | D | 0.813 | deleterious | D | 0.815981961 | 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.