Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14370 | 43333;43334;43335 | chr2:178633023;178633022;178633021 | chr2:179497750;179497749;179497748 |
| N2AB | 12729 | 38410;38411;38412 | chr2:178633023;178633022;178633021 | chr2:179497750;179497749;179497748 |
| N2A | 11802 | 35629;35630;35631 | chr2:178633023;178633022;178633021 | chr2:179497750;179497749;179497748 |
| N2B | 5305 | 16138;16139;16140 | chr2:178633023;178633022;178633021 | chr2:179497750;179497749;179497748 |
| Novex-1 | 5430 | 16513;16514;16515 | chr2:178633023;178633022;178633021 | chr2:179497750;179497749;179497748 |
| Novex-2 | 5497 | 16714;16715;16716 | chr2:178633023;178633022;178633021 | chr2:179497750;179497749;179497748 |
| 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 | rs1463898788  |
-2.667 | 0.995 | D | 0.767 | 0.51 | 0.388174495139 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/E | rs1463898788 |
-2.667 | 0.995 | D | 0.767 | 0.51 | 0.388174495139 | gnomAD-4.0.0 | 4.79192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39873E-06 | 1.16001E-05 | 0 |
| G/R | None | None | 0.999 | D | 0.751 | 0.431 | 0.480801007081 | gnomAD-4.0.0 | 1.3691E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79955E-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 | 0.6084 | likely_pathogenic | 0.557 | ambiguous | -0.672 | Destabilizing | 0.984 | D | 0.651 | prob.neutral | D | 0.619352556 | None | None | N |
| G/C | 0.726 | likely_pathogenic | 0.719 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/D | 0.5817 | likely_pathogenic | 0.5513 | ambiguous | -1.337 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| G/E | 0.6301 | likely_pathogenic | 0.5836 | pathogenic | -1.466 | Destabilizing | 0.995 | D | 0.767 | deleterious | D | 0.592670812 | None | None | N |
| G/F | 0.9544 | likely_pathogenic | 0.9443 | pathogenic | -1.234 | Destabilizing | 0.986 | D | 0.723 | deleterious | None | None | None | None | N |
| G/H | 0.8049 | likely_pathogenic | 0.7891 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/I | 0.9256 | likely_pathogenic | 0.9053 | pathogenic | -0.554 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| G/K | 0.7178 | likely_pathogenic | 0.6894 | pathogenic | -1.35 | Destabilizing | 0.996 | D | 0.765 | deleterious | None | None | None | None | N |
| G/L | 0.929 | likely_pathogenic | 0.9132 | pathogenic | -0.554 | Destabilizing | 0.986 | D | 0.753 | deleterious | None | None | None | None | N |
| G/M | 0.9383 | likely_pathogenic | 0.9248 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/N | 0.6189 | likely_pathogenic | 0.5813 | pathogenic | -0.852 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/P | 0.987 | likely_pathogenic | 0.9816 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/Q | 0.6752 | likely_pathogenic | 0.6506 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/R | 0.5437 | ambiguous | 0.5232 | ambiguous | -0.856 | Destabilizing | 0.999 | D | 0.751 | deleterious | D | 0.598719162 | None | None | N |
| G/S | 0.2906 | likely_benign | 0.2717 | benign | -0.966 | Destabilizing | 0.996 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/T | 0.7595 | likely_pathogenic | 0.7281 | pathogenic | -1.04 | Destabilizing | 0.996 | D | 0.775 | deleterious | None | None | None | None | N |
| G/V | 0.8764 | likely_pathogenic | 0.8486 | pathogenic | -0.556 | Destabilizing | 0.995 | D | 0.741 | deleterious | D | 0.664079133 | None | None | N |
| G/W | 0.8663 | likely_pathogenic | 0.8638 | pathogenic | -1.489 | Destabilizing | 0.393 | N | 0.584 | neutral | None | None | None | None | N |
| G/Y | 0.8986 | likely_pathogenic | 0.8785 | pathogenic | -1.15 | Destabilizing | 0.986 | D | 0.736 | 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.