Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20352 | 61279;61280;61281 | chr2:178590671;178590670;178590669 | chr2:179455398;179455397;179455396 |
| N2AB | 18711 | 56356;56357;56358 | chr2:178590671;178590670;178590669 | chr2:179455398;179455397;179455396 |
| N2A | 17784 | 53575;53576;53577 | chr2:178590671;178590670;178590669 | chr2:179455398;179455397;179455396 |
| N2B | 11287 | 34084;34085;34086 | chr2:178590671;178590670;178590669 | chr2:179455398;179455397;179455396 |
| Novex-1 | 11412 | 34459;34460;34461 | chr2:178590671;178590670;178590669 | chr2:179455398;179455397;179455396 |
| Novex-2 | 11479 | 34660;34661;34662 | chr2:178590671;178590670;178590669 | chr2:179455398;179455397;179455396 |
| 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 | None | None | 1.0 | D | 0.917 | 0.666 | 0.643501137068 | gnomAD-4.0.0 | 1.59256E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02499E-05 |
| G/R | rs1223336723  |
None | 1.0 | D | 0.926 | 0.671 | 0.567643136482 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1223336723 |
None | 1.0 | D | 0.926 | 0.671 | 0.567643136482 | gnomAD-4.0.0 | 2.56415E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78987E-06 | 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 | 0.7473 | likely_pathogenic | 0.7624 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.560404435 | None | None | I |
| G/C | 0.8344 | likely_pathogenic | 0.853 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/D | 0.9045 | likely_pathogenic | 0.9359 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | I |
| G/E | 0.9297 | likely_pathogenic | 0.9479 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.571760741 | None | None | I |
| G/F | 0.9722 | likely_pathogenic | 0.9747 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | I |
| G/H | 0.9519 | likely_pathogenic | 0.9668 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| G/I | 0.9657 | likely_pathogenic | 0.9672 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/K | 0.9533 | likely_pathogenic | 0.9631 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | I |
| G/L | 0.9549 | likely_pathogenic | 0.9639 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/M | 0.9718 | likely_pathogenic | 0.9771 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| G/N | 0.9232 | likely_pathogenic | 0.9515 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/P | 0.9966 | likely_pathogenic | 0.9975 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/Q | 0.9304 | likely_pathogenic | 0.9466 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | I |
| G/R | 0.9005 | likely_pathogenic | 0.9111 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.926 | deleterious | D | 0.560657925 | None | None | I |
| G/S | 0.5683 | likely_pathogenic | 0.6421 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/T | 0.8707 | likely_pathogenic | 0.905 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/V | 0.9308 | likely_pathogenic | 0.9304 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.554163465 | None | None | I |
| G/W | 0.9626 | likely_pathogenic | 0.9643 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/Y | 0.9569 | likely_pathogenic | 0.964 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.902 | 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.