Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7069 | 21430;21431;21432 | chr2:178724054;178724053;178724052 | chr2:179588781;179588780;179588779 |
| N2AB | 6752 | 20479;20480;20481 | chr2:178724054;178724053;178724052 | chr2:179588781;179588780;179588779 |
| N2A | 5825 | 17698;17699;17700 | chr2:178724054;178724053;178724052 | chr2:179588781;179588780;179588779 |
| 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 | rs368334249  |
-0.014 | 1.0 | D | 0.777 | 0.687 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs368334249 |
-0.014 | 1.0 | D | 0.777 | 0.687 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs368334249 |
-0.014 | 1.0 | D | 0.777 | 0.687 | None | gnomAD-4.0.0 | 6.19761E-06 | None | None | None | None | I | None | 1.33259E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.765 | 0.727 | 0.871408021018 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.75482E-04 | 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 | 0.6212 | likely_pathogenic | 0.7063 | pathogenic | -0.192 | Destabilizing | 0.998 | D | 0.602 | neutral | D | 0.572287209 | None | None | I |
| G/C | 0.9339 | likely_pathogenic | 0.9596 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| G/D | 0.9605 | likely_pathogenic | 0.9821 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/E | 0.9711 | likely_pathogenic | 0.987 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.648044325 | None | None | I |
| G/F | 0.9842 | likely_pathogenic | 0.9908 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/H | 0.9904 | likely_pathogenic | 0.9947 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/I | 0.9659 | likely_pathogenic | 0.984 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| G/K | 0.9891 | likely_pathogenic | 0.9947 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/L | 0.9784 | likely_pathogenic | 0.9882 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/M | 0.9887 | likely_pathogenic | 0.9945 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/N | 0.9738 | likely_pathogenic | 0.9873 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/P | 0.9927 | likely_pathogenic | 0.9953 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/Q | 0.9811 | likely_pathogenic | 0.9903 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/R | 0.9624 | likely_pathogenic | 0.9793 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.667696163 | None | None | I |
| G/S | 0.6416 | likely_pathogenic | 0.7298 | pathogenic | -0.511 | Destabilizing | 0.993 | D | 0.599 | neutral | None | None | None | None | I |
| G/T | 0.9173 | likely_pathogenic | 0.9546 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/V | 0.9191 | likely_pathogenic | 0.9571 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.635425276 | None | None | I |
| G/W | 0.9763 | likely_pathogenic | 0.9854 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9831 | likely_pathogenic | 0.991 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.757 | 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.