Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27599 | 83020;83021;83022 | chr2:178563337;178563336;178563335 | chr2:179428064;179428063;179428062 |
| N2AB | 25958 | 78097;78098;78099 | chr2:178563337;178563336;178563335 | chr2:179428064;179428063;179428062 |
| N2A | 25031 | 75316;75317;75318 | chr2:178563337;178563336;178563335 | chr2:179428064;179428063;179428062 |
| N2B | 18534 | 55825;55826;55827 | chr2:178563337;178563336;178563335 | chr2:179428064;179428063;179428062 |
| Novex-1 | 18659 | 56200;56201;56202 | chr2:178563337;178563336;178563335 | chr2:179428064;179428063;179428062 |
| Novex-2 | 18726 | 56401;56402;56403 | chr2:178563337;178563336;178563335 | chr2:179428064;179428063;179428062 |
| 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/D | rs1553571755  |
None | 1.0 | N | 0.714 | 0.597 | 0.433713641954 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.706 | 0.562 | 0.369682402691 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.7592 | likely_pathogenic | 0.7636 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.495399566 | None | None | I |
| G/C | 0.8349 | likely_pathogenic | 0.8327 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.549752011 | None | None | I |
| G/D | 0.9239 | likely_pathogenic | 0.931 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.52075875 | None | None | I |
| G/E | 0.9359 | likely_pathogenic | 0.9355 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/F | 0.9711 | likely_pathogenic | 0.9688 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/H | 0.9375 | likely_pathogenic | 0.9391 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/I | 0.9633 | likely_pathogenic | 0.9568 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/K | 0.9296 | likely_pathogenic | 0.9152 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/L | 0.9475 | likely_pathogenic | 0.9468 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/M | 0.9583 | likely_pathogenic | 0.9558 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.8546 | likely_pathogenic | 0.8841 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| G/P | 0.9959 | likely_pathogenic | 0.9958 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/Q | 0.9058 | likely_pathogenic | 0.8949 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/R | 0.8649 | likely_pathogenic | 0.8498 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.514024027 | None | None | I |
| G/S | 0.582 | likely_pathogenic | 0.6127 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.504945446 | None | None | I |
| G/T | 0.8894 | likely_pathogenic | 0.8869 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/V | 0.9382 | likely_pathogenic | 0.932 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.549752011 | None | None | I |
| G/W | 0.9525 | likely_pathogenic | 0.9479 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/Y | 0.9527 | likely_pathogenic | 0.9535 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.778 | 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.