Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6962 | 21109;21110;21111 | chr2:178724491;178724490;178724489 | chr2:179589218;179589217;179589216 |
| N2AB | 6645 | 20158;20159;20160 | chr2:178724491;178724490;178724489 | chr2:179589218;179589217;179589216 |
| N2A | 5718 | 17377;17378;17379 | chr2:178724491;178724490;178724489 | chr2:179589218;179589217;179589216 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | None | None | 0.999 | D | 0.661 | 0.67 | 0.647936649257 | gnomAD-4.0.0 | 6.86412E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02418E-07 | 0 | 0 |
| G/E | rs531296995  |
-0.747 | 1.0 | D | 0.773 | 0.611 | 0.868753955422 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/E | rs531296995 |
-0.747 | 1.0 | D | 0.773 | 0.611 | 0.868753955422 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs531296995 |
-0.747 | 1.0 | D | 0.773 | 0.611 | 0.868753955422 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/E | rs531296995 |
-0.747 | 1.0 | D | 0.773 | 0.611 | 0.868753955422 | gnomAD-4.0.0 | 4.97185E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.65728E-04 | 5.95181E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.778 | 0.697 | 0.89534292295 | gnomAD-4.0.0 | 3.20617E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.7818E-05 | None | 0 | 0 | 2.88824E-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 | 0.4018 | ambiguous | 0.3888 | ambiguous | -0.313 | Destabilizing | 0.999 | D | 0.661 | neutral | D | 0.587840446 | None | None | I |
| G/C | 0.6619 | likely_pathogenic | 0.6868 | pathogenic | -0.926 | Destabilizing | 0.964 | D | 0.686 | prob.neutral | None | None | None | None | I |
| G/D | 0.3388 | likely_benign | 0.3193 | benign | -0.2 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/E | 0.4117 | ambiguous | 0.3856 | ambiguous | -0.348 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.568086809 | None | None | I |
| G/F | 0.8965 | likely_pathogenic | 0.8902 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/H | 0.678 | likely_pathogenic | 0.6324 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/I | 0.9118 | likely_pathogenic | 0.9212 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/K | 0.6444 | likely_pathogenic | 0.5841 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/L | 0.8085 | likely_pathogenic | 0.782 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/M | 0.8566 | likely_pathogenic | 0.8426 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/N | 0.4307 | ambiguous | 0.3925 | ambiguous | -0.401 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/P | 0.9777 | likely_pathogenic | 0.9766 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/Q | 0.5411 | ambiguous | 0.489 | ambiguous | -0.649 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/R | 0.4925 | ambiguous | 0.4461 | ambiguous | -0.33 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.593846367 | None | None | I |
| G/S | 0.2004 | likely_benign | 0.1924 | benign | -0.63 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/T | 0.4983 | ambiguous | 0.4992 | ambiguous | -0.696 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/V | 0.8197 | likely_pathogenic | 0.8308 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.613782166 | None | None | I |
| G/W | 0.743 | likely_pathogenic | 0.7129 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/Y | 0.8165 | likely_pathogenic | 0.798 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.796 | 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.