Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28084 | 84475;84476;84477 | chr2:178561882;178561881;178561880 | chr2:179426609;179426608;179426607 |
| N2AB | 26443 | 79552;79553;79554 | chr2:178561882;178561881;178561880 | chr2:179426609;179426608;179426607 |
| N2A | 25516 | 76771;76772;76773 | chr2:178561882;178561881;178561880 | chr2:179426609;179426608;179426607 |
| N2B | 19019 | 57280;57281;57282 | chr2:178561882;178561881;178561880 | chr2:179426609;179426608;179426607 |
| Novex-1 | 19144 | 57655;57656;57657 | chr2:178561882;178561881;178561880 | chr2:179426609;179426608;179426607 |
| Novex-2 | 19211 | 57856;57857;57858 | chr2:178561882;178561881;178561880 | chr2:179426609;179426608;179426607 |
| 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/S | rs547578610  |
-0.186 | 1.0 | N | 0.721 | 0.496 | 0.52586976336 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 3.36511E-04 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs547578610 |
-0.186 | 1.0 | N | 0.721 | 0.496 | 0.52586976336 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 5.78258E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs547578610 |
-0.186 | 1.0 | N | 0.721 | 0.496 | 0.52586976336 | 1000 genomes | 5.99042E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 3E-03 | 0 | None | None | None | 0 | None |
| G/S | rs547578610 |
-0.186 | 1.0 | N | 0.721 | 0.496 | 0.52586976336 | gnomAD-4.0.0 | 7.68748E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.45836E-04 | None | 0 | 0 | 0 | 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 | 0.8685 | likely_pathogenic | 0.9004 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.634 | neutral | N | 0.510431813 | None | None | I |
| G/C | 0.947 | likely_pathogenic | 0.9646 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.538388343 | None | None | I |
| G/D | 0.9747 | likely_pathogenic | 0.9854 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.517953457 | None | None | I |
| G/E | 0.9816 | likely_pathogenic | 0.9894 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/F | 0.9892 | likely_pathogenic | 0.9928 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/H | 0.9885 | likely_pathogenic | 0.9921 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/I | 0.9827 | likely_pathogenic | 0.9896 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.988 | likely_pathogenic | 0.9925 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/L | 0.9831 | likely_pathogenic | 0.9885 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.991 | likely_pathogenic | 0.9941 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/N | 0.9662 | likely_pathogenic | 0.9748 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| G/P | 0.9971 | likely_pathogenic | 0.9979 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Q | 0.9803 | likely_pathogenic | 0.9877 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/R | 0.964 | likely_pathogenic | 0.9778 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.521004877 | None | None | I |
| G/S | 0.7698 | likely_pathogenic | 0.8329 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.495503882 | None | None | I |
| G/T | 0.9645 | likely_pathogenic | 0.9783 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/V | 0.9725 | likely_pathogenic | 0.984 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.533753534 | None | None | I |
| G/W | 0.9825 | likely_pathogenic | 0.9897 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/Y | 0.9835 | likely_pathogenic | 0.9889 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.781 | 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.