Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1163 | 3712;3713;3714 | chr2:178781157;178781156;178781155 | chr2:179645884;179645883;179645882 |
| N2AB | 1163 | 3712;3713;3714 | chr2:178781157;178781156;178781155 | chr2:179645884;179645883;179645882 |
| N2A | 1163 | 3712;3713;3714 | chr2:178781157;178781156;178781155 | chr2:179645884;179645883;179645882 |
| N2B | 1117 | 3574;3575;3576 | chr2:178781157;178781156;178781155 | chr2:179645884;179645883;179645882 |
| Novex-1 | 1117 | 3574;3575;3576 | chr2:178781157;178781156;178781155 | chr2:179645884;179645883;179645882 |
| Novex-2 | 1117 | 3574;3575;3576 | chr2:178781157;178781156;178781155 | chr2:179645884;179645883;179645882 |
| Novex-3 | 1163 | 3712;3713;3714 | chr2:178781157;178781156;178781155 | chr2:179645884;179645883;179645882 |
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 | rs765678606  |
-1.262 | 1.0 | D | 0.832 | 0.744 | None | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | I | None | 8.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs765678606 |
-1.262 | 1.0 | D | 0.832 | 0.744 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 1.20668E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs765678606 |
-1.262 | 1.0 | D | 0.832 | 0.744 | None | gnomAD-4.0.0 | 3.28541E-05 | None | None | None | None | I | None | 1.20668E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.8775 | likely_pathogenic | 0.864 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.595749791 | None | None | I |
| G/C | 0.9762 | likely_pathogenic | 0.9714 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/D | 0.9862 | likely_pathogenic | 0.9806 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/E | 0.9882 | likely_pathogenic | 0.983 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.657780684 | None | None | I |
| G/F | 0.9957 | likely_pathogenic | 0.9948 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/H | 0.9944 | likely_pathogenic | 0.9929 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/I | 0.9958 | likely_pathogenic | 0.9946 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/K | 0.992 | likely_pathogenic | 0.9889 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/L | 0.993 | likely_pathogenic | 0.9912 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/M | 0.9959 | likely_pathogenic | 0.9946 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/N | 0.9877 | likely_pathogenic | 0.9826 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Q | 0.9847 | likely_pathogenic | 0.9792 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/R | 0.9744 | likely_pathogenic | 0.9758 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.732085174 | None | None | I |
| G/S | 0.8288 | likely_pathogenic | 0.806 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/T | 0.9782 | likely_pathogenic | 0.974 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/V | 0.9908 | likely_pathogenic | 0.9882 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.78910604 | None | None | I |
| G/W | 0.9921 | likely_pathogenic | 0.9905 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Y | 0.9952 | likely_pathogenic | 0.9935 | pathogenic | -1.063 | 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.