Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32231 | 96916;96917;96918 | chr2:178543282;178543281;178543280 | chr2:179408009;179408008;179408007 |
| N2AB | 30590 | 91993;91994;91995 | chr2:178543282;178543281;178543280 | chr2:179408009;179408008;179408007 |
| N2A | 29663 | 89212;89213;89214 | chr2:178543282;178543281;178543280 | chr2:179408009;179408008;179408007 |
| N2B | 23166 | 69721;69722;69723 | chr2:178543282;178543281;178543280 | chr2:179408009;179408008;179408007 |
| Novex-1 | 23291 | 70096;70097;70098 | chr2:178543282;178543281;178543280 | chr2:179408009;179408008;179408007 |
| Novex-2 | 23358 | 70297;70298;70299 | chr2:178543282;178543281;178543280 | chr2:179408009;179408008;179408007 |
| 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/D | None | None | 1.0 | N | 0.705 | 0.402 | 0.565354849907 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.684 | 0.427 | 0.509820907775 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 3.66327E-05 |
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 | 0.7433 | likely_pathogenic | 0.8083 | pathogenic | -0.242 | Destabilizing | 0.988 | D | 0.579 | neutral | N | 0.488322448 | None | None | I |
| G/C | 0.8559 | likely_pathogenic | 0.9028 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.5509041 | None | None | I |
| G/D | 0.9548 | likely_pathogenic | 0.9688 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.512035791 | None | None | I |
| G/E | 0.967 | likely_pathogenic | 0.977 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/F | 0.9756 | likely_pathogenic | 0.9826 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/H | 0.9613 | likely_pathogenic | 0.9743 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.968 | likely_pathogenic | 0.9793 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/K | 0.9589 | likely_pathogenic | 0.972 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/L | 0.9669 | likely_pathogenic | 0.9789 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/M | 0.9779 | likely_pathogenic | 0.9856 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/N | 0.9174 | likely_pathogenic | 0.9447 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/P | 0.9941 | likely_pathogenic | 0.9953 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/Q | 0.9496 | likely_pathogenic | 0.9632 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/R | 0.9057 | likely_pathogenic | 0.9323 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.504807315 | None | None | I |
| G/S | 0.617 | likely_pathogenic | 0.697 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.502805852 | None | None | I |
| G/T | 0.9108 | likely_pathogenic | 0.9389 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/V | 0.943 | likely_pathogenic | 0.9633 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.5509041 | None | None | I |
| G/W | 0.9682 | likely_pathogenic | 0.9764 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Y | 0.9655 | likely_pathogenic | 0.9772 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.825 | 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.