Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25040 | 75343;75344;75345 | chr2:178571014;178571013;178571012 | chr2:179435741;179435740;179435739 |
| N2AB | 23399 | 70420;70421;70422 | chr2:178571014;178571013;178571012 | chr2:179435741;179435740;179435739 |
| N2A | 22472 | 67639;67640;67641 | chr2:178571014;178571013;178571012 | chr2:179435741;179435740;179435739 |
| N2B | 15975 | 48148;48149;48150 | chr2:178571014;178571013;178571012 | chr2:179435741;179435740;179435739 |
| Novex-1 | 16100 | 48523;48524;48525 | chr2:178571014;178571013;178571012 | chr2:179435741;179435740;179435739 |
| Novex-2 | 16167 | 48724;48725;48726 | chr2:178571014;178571013;178571012 | chr2:179435741;179435740;179435739 |
| 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 | rs766830553  |
-1.053 | 1.0 | N | 0.665 | 0.427 | 0.299427821978 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/S | rs766830553 |
-1.053 | 1.0 | N | 0.665 | 0.427 | 0.299427821978 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs766830553 |
-1.053 | 1.0 | N | 0.665 | 0.427 | 0.299427821978 | gnomAD-4.0.0 | 8.68135E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.6469E-04 | 1.10256E-05 | 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 | 0.5509 | ambiguous | 0.5402 | ambiguous | -0.579 | Destabilizing | 1.0 | D | 0.589 | neutral | N | 0.482575916 | None | None | N |
| G/C | 0.8742 | likely_pathogenic | 0.8427 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.503606687 | None | None | N |
| G/D | 0.9829 | likely_pathogenic | 0.9787 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.492526643 | None | None | N |
| G/E | 0.9851 | likely_pathogenic | 0.9814 | pathogenic | -1.507 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/F | 0.9934 | likely_pathogenic | 0.9903 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/H | 0.9869 | likely_pathogenic | 0.9812 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/I | 0.9927 | likely_pathogenic | 0.9885 | pathogenic | 0.273 | Stabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/K | 0.9953 | likely_pathogenic | 0.9937 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/L | 0.9885 | likely_pathogenic | 0.9851 | pathogenic | 0.273 | Stabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/M | 0.9892 | likely_pathogenic | 0.9863 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/N | 0.963 | likely_pathogenic | 0.9514 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/Q | 0.9792 | likely_pathogenic | 0.9731 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/R | 0.9798 | likely_pathogenic | 0.9723 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.488247455 | None | None | N |
| G/S | 0.4359 | ambiguous | 0.4073 | ambiguous | -1.279 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.467875021 | None | None | N |
| G/T | 0.9106 | likely_pathogenic | 0.886 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/V | 0.9785 | likely_pathogenic | 0.9676 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.892 | deleterious | D | 0.537333208 | None | None | N |
| G/W | 0.9881 | likely_pathogenic | 0.9809 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/Y | 0.9854 | likely_pathogenic | 0.9785 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | 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.