Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9778 | 29557;29558;29559 | chr2:178706542;178706541;178706540 | chr2:179571269;179571268;179571267 |
| N2AB | 9461 | 28606;28607;28608 | chr2:178706542;178706541;178706540 | chr2:179571269;179571268;179571267 |
| N2A | 8534 | 25825;25826;25827 | chr2:178706542;178706541;178706540 | chr2:179571269;179571268;179571267 |
| 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 | rs775854531  |
-0.346 | 1.0 | None | 0.735 | 0.699 | 0.470237251169 | gnomAD-2.1.1 | 2.81E-05 | None | None | None | None | I | None | 0 | 2.02852E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs775854531 |
-0.346 | 1.0 | None | 0.735 | 0.699 | 0.470237251169 | gnomAD-4.0.0 | 4.78931E-06 | None | None | None | None | I | None | 0 | 1.56523E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs775854531 |
-0.976 | 1.0 | None | 0.854 | 0.667 | 0.510700632011 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.77E-05 | 0 |
| G/D | rs775854531 |
-0.976 | 1.0 | None | 0.854 | 0.667 | 0.510700632011 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs775854531 |
-0.976 | 1.0 | None | 0.854 | 0.667 | 0.510700632011 | gnomAD-4.0.0 | 2.045E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.37325E-05 | 1.09798E-05 | 6.4041E-05 |
| G/S | rs1181765627 |
-0.611 | 1.0 | None | 0.798 | 0.68 | 0.441949972293 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| G/S | rs1181765627 |
-0.611 | 1.0 | None | 0.798 | 0.68 | 0.441949972293 | gnomAD-4.0.0 | 6.84173E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09489E-06 | 0 | 1.6564E-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 | 0.8958 | likely_pathogenic | 0.854 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/C | 0.9647 | likely_pathogenic | 0.9402 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/D | 0.9499 | likely_pathogenic | 0.9239 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/E | 0.9664 | likely_pathogenic | 0.9435 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/F | 0.9954 | likely_pathogenic | 0.9907 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/H | 0.9862 | likely_pathogenic | 0.9701 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/I | 0.9921 | likely_pathogenic | 0.9883 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/K | 0.9686 | likely_pathogenic | 0.9477 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/L | 0.9906 | likely_pathogenic | 0.9842 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/M | 0.9937 | likely_pathogenic | 0.9894 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/N | 0.9691 | likely_pathogenic | 0.9429 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/Q | 0.9636 | likely_pathogenic | 0.9354 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/R | 0.9331 | likely_pathogenic | 0.88 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/S | 0.8046 | likely_pathogenic | 0.6686 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/T | 0.9638 | likely_pathogenic | 0.9422 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/V | 0.9854 | likely_pathogenic | 0.9768 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/W | 0.9875 | likely_pathogenic | 0.9731 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/Y | 0.9916 | likely_pathogenic | 0.9842 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.839 | 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.