Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8855 | 26788;26789;26790 | chr2:178714095;178714094;178714093 | chr2:179578822;179578821;179578820 |
| N2AB | 8538 | 25837;25838;25839 | chr2:178714095;178714094;178714093 | chr2:179578822;179578821;179578820 |
| N2A | 7611 | 23056;23057;23058 | chr2:178714095;178714094;178714093 | chr2:179578822;179578821;179578820 |
| 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/S | rs752090627  |
-0.346 | 1.0 | D | 0.825 | 0.701 | 0.560718424197 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs752090627 |
-0.346 | 1.0 | D | 0.825 | 0.701 | 0.560718424197 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| G/V | rs767057972 |
0.034 | 1.0 | D | 0.758 | 0.798 | 0.796077393333 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | I | None | 0 | 5.67E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.12E-05 | 0 |
| G/V | rs767057972 |
0.034 | 1.0 | D | 0.758 | 0.798 | 0.796077393333 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 0 | 1.31096E-04 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| G/V | rs767057972 |
0.034 | 1.0 | D | 0.758 | 0.798 | 0.796077393333 | gnomAD-4.0.0 | 1.42543E-05 | None | None | None | None | I | None | 1.33511E-05 | 8.34028E-05 | None | 0 | 0 | None | 0 | 0 | 1.27147E-05 | 0 | 3.20256E-05 |
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 | 0.547 | ambiguous | 0.6117 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.561375471 | None | None | I |
| G/C | 0.9111 | likely_pathogenic | 0.9445 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.627470957 | None | None | I |
| G/D | 0.9699 | likely_pathogenic | 0.9746 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.635546718 | None | None | I |
| G/E | 0.9766 | likely_pathogenic | 0.9826 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/F | 0.9894 | likely_pathogenic | 0.9917 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| G/H | 0.9902 | likely_pathogenic | 0.993 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/I | 0.9723 | likely_pathogenic | 0.9771 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/K | 0.9893 | likely_pathogenic | 0.992 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/L | 0.9785 | likely_pathogenic | 0.9829 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/M | 0.9856 | likely_pathogenic | 0.9898 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/N | 0.9755 | likely_pathogenic | 0.9819 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/P | 0.995 | likely_pathogenic | 0.9957 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/Q | 0.9813 | likely_pathogenic | 0.9868 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/R | 0.9661 | likely_pathogenic | 0.9756 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.65260546 | None | None | I |
| G/S | 0.5838 | likely_pathogenic | 0.6564 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.571438913 | None | None | I |
| G/T | 0.9087 | likely_pathogenic | 0.9376 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/V | 0.9335 | likely_pathogenic | 0.946 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.620334574 | None | None | I |
| G/W | 0.9802 | likely_pathogenic | 0.9852 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9856 | likely_pathogenic | 0.9894 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | 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.