Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24791 | 74596;74597;74598 | chr2:178571761;178571760;178571759 | chr2:179436488;179436487;179436486 |
| N2AB | 23150 | 69673;69674;69675 | chr2:178571761;178571760;178571759 | chr2:179436488;179436487;179436486 |
| N2A | 22223 | 66892;66893;66894 | chr2:178571761;178571760;178571759 | chr2:179436488;179436487;179436486 |
| N2B | 15726 | 47401;47402;47403 | chr2:178571761;178571760;178571759 | chr2:179436488;179436487;179436486 |
| Novex-1 | 15851 | 47776;47777;47778 | chr2:178571761;178571760;178571759 | chr2:179436488;179436487;179436486 |
| Novex-2 | 15918 | 47977;47978;47979 | chr2:178571761;178571760;178571759 | chr2:179436488;179436487;179436486 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1055906361  |
None | 0.782 | N | 0.613 | 0.347 | 0.392702134506 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1055906361 |
None | 0.782 | N | 0.613 | 0.347 | 0.392702134506 | gnomAD-4.0.0 | 3.84537E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18329E-06 | 0 | 0 |
| T/S | rs1055906361 |
-1.315 | 0.013 | N | 0.278 | 0.158 | 0.226586394389 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1055906361 |
-1.315 | 0.013 | N | 0.278 | 0.158 | 0.226586394389 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/S | rs1055906361 |
-1.315 | 0.013 | N | 0.278 | 0.158 | 0.226586394389 | gnomAD-4.0.0 | 3.84537E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18329E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0728 | likely_benign | 0.0719 | benign | -0.786 | Destabilizing | 0.001 | N | 0.213 | neutral | N | 0.515167217 | None | None | N |
| T/C | 0.2711 | likely_benign | 0.2713 | benign | -0.762 | Destabilizing | 0.973 | D | 0.661 | neutral | None | None | None | None | N |
| T/D | 0.3675 | ambiguous | 0.346 | ambiguous | -1.492 | Destabilizing | 0.826 | D | 0.595 | neutral | None | None | None | None | N |
| T/E | 0.2366 | likely_benign | 0.232 | benign | -1.443 | Destabilizing | 0.575 | D | 0.592 | neutral | None | None | None | None | N |
| T/F | 0.2107 | likely_benign | 0.2003 | benign | -0.805 | Destabilizing | 0.906 | D | 0.76 | deleterious | None | None | None | None | N |
| T/G | 0.189 | likely_benign | 0.1884 | benign | -1.08 | Destabilizing | 0.404 | N | 0.695 | prob.neutral | None | None | None | None | N |
| T/H | 0.189 | likely_benign | 0.1817 | benign | -1.403 | Destabilizing | 0.991 | D | 0.747 | deleterious | None | None | None | None | N |
| T/I | 0.112 | likely_benign | 0.1135 | benign | -0.076 | Destabilizing | 0.782 | D | 0.613 | neutral | N | 0.499409854 | None | None | N |
| T/K | 0.1607 | likely_benign | 0.1555 | benign | -0.921 | Destabilizing | 0.575 | D | 0.588 | neutral | None | None | None | None | N |
| T/L | 0.0905 | likely_benign | 0.0912 | benign | -0.076 | Destabilizing | 0.404 | N | 0.597 | neutral | None | None | None | None | N |
| T/M | 0.0905 | likely_benign | 0.0909 | benign | 0.236 | Stabilizing | 0.973 | D | 0.664 | neutral | None | None | None | None | N |
| T/N | 0.1112 | likely_benign | 0.1058 | benign | -1.207 | Destabilizing | 0.782 | D | 0.602 | neutral | N | 0.497243807 | None | None | N |
| T/P | 0.5818 | likely_pathogenic | 0.5438 | ambiguous | -0.28 | Destabilizing | 0.879 | D | 0.647 | neutral | D | 0.542860066 | None | None | N |
| T/Q | 0.1676 | likely_benign | 0.1621 | benign | -1.366 | Destabilizing | 0.906 | D | 0.661 | neutral | None | None | None | None | N |
| T/R | 0.136 | likely_benign | 0.1267 | benign | -0.681 | Destabilizing | 0.826 | D | 0.654 | neutral | None | None | None | None | N |
| T/S | 0.086 | likely_benign | 0.0858 | benign | -1.308 | Destabilizing | 0.013 | N | 0.278 | neutral | N | 0.478014338 | None | None | N |
| T/V | 0.093 | likely_benign | 0.0996 | benign | -0.28 | Destabilizing | 0.404 | N | 0.582 | neutral | None | None | None | None | N |
| T/W | 0.5342 | ambiguous | 0.513 | ambiguous | -0.854 | Destabilizing | 0.991 | D | 0.785 | deleterious | None | None | None | None | N |
| T/Y | 0.2469 | likely_benign | 0.2426 | benign | -0.544 | Destabilizing | 0.967 | D | 0.753 | deleterious | None | None | None | None | N |
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.