Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27689 | 83290;83291;83292 | chr2:178563067;178563066;178563065 | chr2:179427794;179427793;179427792 |
| N2AB | 26048 | 78367;78368;78369 | chr2:178563067;178563066;178563065 | chr2:179427794;179427793;179427792 |
| N2A | 25121 | 75586;75587;75588 | chr2:178563067;178563066;178563065 | chr2:179427794;179427793;179427792 |
| N2B | 18624 | 56095;56096;56097 | chr2:178563067;178563066;178563065 | chr2:179427794;179427793;179427792 |
| Novex-1 | 18749 | 56470;56471;56472 | chr2:178563067;178563066;178563065 | chr2:179427794;179427793;179427792 |
| Novex-2 | 18816 | 56671;56672;56673 | chr2:178563067;178563066;178563065 | chr2:179427794;179427793;179427792 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs761181487  |
None | 1.0 | N | 0.578 | 0.313 | 0.323886383625 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs761181487 |
None | 1.0 | N | 0.578 | 0.313 | 0.323886383625 | gnomAD-4.0.0 | 1.85925E-06 | None | None | None | None | I | None | 1.33529E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69533E-06 | 0 | 0 |
| A/T | None | -0.616 | 1.0 | N | 0.711 | 0.397 | 0.36036328697 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | None | -0.616 | 1.0 | N | 0.711 | 0.397 | 0.36036328697 | gnomAD-4.0.0 | 6.84243E-07 | None | None | None | None | I | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.637 | 0.387 | 0.391000631824 | gnomAD-4.0.0 | 1.59143E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7795 | likely_pathogenic | 0.7338 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| A/D | 0.9415 | likely_pathogenic | 0.9164 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| A/E | 0.9203 | likely_pathogenic | 0.8944 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.501745976 | None | None | I |
| A/F | 0.9078 | likely_pathogenic | 0.8884 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| A/G | 0.4141 | ambiguous | 0.3782 | ambiguous | -0.607 | Destabilizing | 1.0 | D | 0.563 | neutral | N | 0.517299488 | None | None | I |
| A/H | 0.9002 | likely_pathogenic | 0.8874 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| A/I | 0.9057 | likely_pathogenic | 0.8866 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| A/K | 0.961 | likely_pathogenic | 0.9505 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| A/L | 0.8358 | likely_pathogenic | 0.7821 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| A/M | 0.8404 | likely_pathogenic | 0.8013 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| A/N | 0.7383 | likely_pathogenic | 0.7072 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| A/P | 0.9265 | likely_pathogenic | 0.9154 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.476696431 | None | None | I |
| A/Q | 0.8318 | likely_pathogenic | 0.7957 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| A/R | 0.9202 | likely_pathogenic | 0.905 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| A/S | 0.1492 | likely_benign | 0.1511 | benign | -0.715 | Destabilizing | 1.0 | D | 0.578 | neutral | N | 0.513987341 | None | None | I |
| A/T | 0.5443 | ambiguous | 0.5301 | ambiguous | -0.782 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.478177689 | None | None | I |
| A/V | 0.6647 | likely_pathogenic | 0.6202 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.460158658 | None | None | I |
| A/W | 0.9882 | likely_pathogenic | 0.9839 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| A/Y | 0.9286 | likely_pathogenic | 0.9144 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.818 | 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.