Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2115 | 6568;6569;6570 | chr2:178775521;178775520;178775519 | chr2:179640248;179640247;179640246 |
| N2AB | 2115 | 6568;6569;6570 | chr2:178775521;178775520;178775519 | chr2:179640248;179640247;179640246 |
| N2A | 2115 | 6568;6569;6570 | chr2:178775521;178775520;178775519 | chr2:179640248;179640247;179640246 |
| N2B | 2069 | 6430;6431;6432 | chr2:178775521;178775520;178775519 | chr2:179640248;179640247;179640246 |
| Novex-1 | 2069 | 6430;6431;6432 | chr2:178775521;178775520;178775519 | chr2:179640248;179640247;179640246 |
| Novex-2 | 2069 | 6430;6431;6432 | chr2:178775521;178775520;178775519 | chr2:179640248;179640247;179640246 |
| Novex-3 | 2115 | 6568;6569;6570 | chr2:178775521;178775520;178775519 | chr2:179640248;179640247;179640246 |
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/A | None | None | 1.0 | D | 0.581 | 0.822 | 0.608622489738 | gnomAD-4.0.0 | 1.59077E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85656E-06 | 0 | 0 |
| G/C | rs1183661272  |
None | 1.0 | D | 0.703 | 0.866 | 0.854799818981 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/C | rs1183661272 |
None | 1.0 | D | 0.703 | 0.866 | 0.854799818981 | gnomAD-4.0.0 | 2.02997E-06 | None | None | None | None | I | None | 1.74758E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20494E-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 | 0.5607 | ambiguous | 0.6187 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.581 | neutral | D | 0.638806894 | None | None | I |
| G/C | 0.8625 | likely_pathogenic | 0.8801 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.719682062 | None | None | I |
| G/D | 0.8617 | likely_pathogenic | 0.8967 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.586870922 | None | None | I |
| G/E | 0.8875 | likely_pathogenic | 0.9161 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/F | 0.9792 | likely_pathogenic | 0.9817 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| G/H | 0.9287 | likely_pathogenic | 0.947 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/I | 0.9552 | likely_pathogenic | 0.9642 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/K | 0.9609 | likely_pathogenic | 0.9686 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/L | 0.9381 | likely_pathogenic | 0.9491 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/M | 0.94 | likely_pathogenic | 0.9512 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/N | 0.7351 | likely_pathogenic | 0.8011 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| G/P | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| G/Q | 0.8687 | likely_pathogenic | 0.9013 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/R | 0.9034 | likely_pathogenic | 0.9174 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.709055635 | None | None | I |
| G/S | 0.3398 | likely_benign | 0.4146 | ambiguous | -0.748 | Destabilizing | 1.0 | D | 0.669 | neutral | D | 0.658474674 | None | None | I |
| G/T | 0.7858 | likely_pathogenic | 0.8356 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | I |
| G/V | 0.9288 | likely_pathogenic | 0.9434 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.735053325 | None | None | I |
| G/W | 0.9605 | likely_pathogenic | 0.9635 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9601 | likely_pathogenic | 0.9667 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | 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.