Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9615 | 29068;29069;29070 | chr2:178707724;178707723;178707722 | chr2:179572451;179572450;179572449 |
| N2AB | 9298 | 28117;28118;28119 | chr2:178707724;178707723;178707722 | chr2:179572451;179572450;179572449 |
| N2A | 8371 | 25336;25337;25338 | chr2:178707724;178707723;178707722 | chr2:179572451;179572450;179572449 |
| 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/E | rs754640016  |
None | 1.0 | None | 0.764 | 0.73 | 0.780696550114 | gnomAD-4.0.0 | 6.84164E-07 | None | None | None | None | I | None | 0 | 2.23624E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs780834082 |
-0.297 | 1.0 | None | 0.772 | 0.742 | 0.846209069967 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs780834082 |
-0.297 | 1.0 | None | 0.772 | 0.742 | 0.846209069967 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| G/V | rs754640016 |
0.094 | 1.0 | None | 0.724 | 0.735 | 0.915970981023 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/V | rs754640016 |
0.094 | 1.0 | None | 0.724 | 0.735 | 0.915970981023 | gnomAD-4.0.0 | 1.36833E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99425E-07 | 1.15939E-05 | 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 | 0.5667 | likely_pathogenic | 0.5893 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/C | 0.9352 | likely_pathogenic | 0.945 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/D | 0.9603 | likely_pathogenic | 0.9705 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/E | 0.9755 | likely_pathogenic | 0.9801 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/F | 0.9907 | likely_pathogenic | 0.9916 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| G/H | 0.9925 | likely_pathogenic | 0.9943 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| G/I | 0.9787 | likely_pathogenic | 0.9784 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| G/K | 0.9939 | likely_pathogenic | 0.9949 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/L | 0.985 | likely_pathogenic | 0.9844 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| G/M | 0.9913 | likely_pathogenic | 0.9917 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | I |
| G/N | 0.9728 | likely_pathogenic | 0.9804 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.996 | likely_pathogenic | 0.9962 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/Q | 0.989 | likely_pathogenic | 0.9904 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/R | 0.9853 | likely_pathogenic | 0.9857 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/S | 0.6129 | likely_pathogenic | 0.7056 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/T | 0.9116 | likely_pathogenic | 0.9377 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/V | 0.9391 | likely_pathogenic | 0.9414 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| G/W | 0.9846 | likely_pathogenic | 0.9879 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9859 | likely_pathogenic | 0.9879 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.718 | 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.