Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33080 | 99463;99464;99465 | chr2:178538591;178538590;178538589 | chr2:179403318;179403317;179403316 |
| N2AB | 31439 | 94540;94541;94542 | chr2:178538591;178538590;178538589 | chr2:179403318;179403317;179403316 |
| N2A | 30512 | 91759;91760;91761 | chr2:178538591;178538590;178538589 | chr2:179403318;179403317;179403316 |
| N2B | 24015 | 72268;72269;72270 | chr2:178538591;178538590;178538589 | chr2:179403318;179403317;179403316 |
| Novex-1 | 24140 | 72643;72644;72645 | chr2:178538591;178538590;178538589 | chr2:179403318;179403317;179403316 |
| Novex-2 | 24207 | 72844;72845;72846 | chr2:178538591;178538590;178538589 | chr2:179403318;179403317;179403316 |
| 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 | rs762905152  |
-0.924 | 1.0 | D | 0.889 | 0.622 | 0.716108874736 | gnomAD-2.1.1 | 7.65E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.21768E-04 | None | 0 | 0 | 0 |
| G/E | rs762905152 |
-0.924 | 1.0 | D | 0.889 | 0.622 | 0.716108874736 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14766E-04 | 0 |
| G/E | rs762905152 |
-0.924 | 1.0 | D | 0.889 | 0.622 | 0.716108874736 | gnomAD-4.0.0 | 4.33856E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47692E-07 | 7.35892E-04 | 3.20256E-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 | 0.7107 | likely_pathogenic | 0.8111 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.557935673 | None | None | I |
| G/C | 0.8894 | likely_pathogenic | 0.9326 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/D | 0.9587 | likely_pathogenic | 0.9719 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/E | 0.9684 | likely_pathogenic | 0.9797 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.557935673 | None | None | I |
| G/F | 0.9883 | likely_pathogenic | 0.9928 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/H | 0.9845 | likely_pathogenic | 0.9918 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/I | 0.9835 | likely_pathogenic | 0.9901 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/K | 0.9883 | likely_pathogenic | 0.9928 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/L | 0.9786 | likely_pathogenic | 0.9883 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/M | 0.9862 | likely_pathogenic | 0.9932 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/N | 0.9584 | likely_pathogenic | 0.9784 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/P | 0.9971 | likely_pathogenic | 0.9981 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/Q | 0.97 | likely_pathogenic | 0.9832 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/R | 0.9672 | likely_pathogenic | 0.9776 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.576293418 | None | None | I |
| G/S | 0.6184 | likely_pathogenic | 0.7403 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/T | 0.9174 | likely_pathogenic | 0.957 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/V | 0.9586 | likely_pathogenic | 0.9751 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.550048862 | None | None | I |
| G/W | 0.9841 | likely_pathogenic | 0.9881 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.577307376 | None | None | I |
| G/Y | 0.9826 | likely_pathogenic | 0.9894 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.874 | 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.