Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27100 | 81523;81524;81525 | chr2:178564834;178564833;178564832 | chr2:179429561;179429560;179429559 |
| N2AB | 25459 | 76600;76601;76602 | chr2:178564834;178564833;178564832 | chr2:179429561;179429560;179429559 |
| N2A | 24532 | 73819;73820;73821 | chr2:178564834;178564833;178564832 | chr2:179429561;179429560;179429559 |
| N2B | 18035 | 54328;54329;54330 | chr2:178564834;178564833;178564832 | chr2:179429561;179429560;179429559 |
| Novex-1 | 18160 | 54703;54704;54705 | chr2:178564834;178564833;178564832 | chr2:179429561;179429560;179429559 |
| Novex-2 | 18227 | 54904;54905;54906 | chr2:178564834;178564833;178564832 | chr2:179429561;179429560;179429559 |
| 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/E | rs1455429334  |
-0.854 | 1.0 | D | 0.865 | 0.664 | 0.610441288985 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1455429334 |
-0.854 | 1.0 | D | 0.865 | 0.664 | 0.610441288985 | gnomAD-4.0.0 | 3.18552E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.56762E-05 | 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 | 0.8888 | likely_pathogenic | 0.9059 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.526491244 | None | None | I |
| G/C | 0.9583 | likely_pathogenic | 0.9672 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/D | 0.9932 | likely_pathogenic | 0.9938 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/E | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.54408852 | None | None | I |
| G/F | 0.9959 | likely_pathogenic | 0.997 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/H | 0.9946 | likely_pathogenic | 0.9958 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/I | 0.9961 | likely_pathogenic | 0.9972 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/K | 0.9949 | likely_pathogenic | 0.9958 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/L | 0.9946 | likely_pathogenic | 0.9959 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/M | 0.9969 | likely_pathogenic | 0.9977 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/N | 0.9874 | likely_pathogenic | 0.9909 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/Q | 0.9931 | likely_pathogenic | 0.9944 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/R | 0.9793 | likely_pathogenic | 0.9825 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.509855019 | None | None | I |
| G/S | 0.8617 | likely_pathogenic | 0.8845 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/T | 0.9837 | likely_pathogenic | 0.9878 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/V | 0.9915 | likely_pathogenic | 0.9939 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.522896846 | None | None | I |
| G/W | 0.992 | likely_pathogenic | 0.9938 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/Y | 0.9934 | likely_pathogenic | 0.9954 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.797 | 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.