Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5475 | 16648;16649;16650 | chr2:178732638;178732637;178732636 | chr2:179597365;179597364;179597363 |
| N2AB | 5158 | 15697;15698;15699 | chr2:178732638;178732637;178732636 | chr2:179597365;179597364;179597363 |
| N2A | 4231 | 12916;12917;12918 | chr2:178732638;178732637;178732636 | chr2:179597365;179597364;179597363 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/R | rs1232661197  |
-0.336 | 1.0 | D | 0.795 | 0.678 | 0.785467031908 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.758 | 0.672 | 0.813948600782 | gnomAD-4.0.0 | 1.36899E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99635E-07 | 1.16069E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6034 | likely_pathogenic | 0.7769 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.559053824 | None | None | I |
| G/C | 0.917 | likely_pathogenic | 0.9685 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/D | 0.9648 | likely_pathogenic | 0.9858 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/E | 0.9746 | likely_pathogenic | 0.9892 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.603236547 | None | None | I |
| G/F | 0.9844 | likely_pathogenic | 0.9924 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/H | 0.9918 | likely_pathogenic | 0.9972 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/I | 0.9526 | likely_pathogenic | 0.9798 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/K | 0.9923 | likely_pathogenic | 0.9965 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/L | 0.9696 | likely_pathogenic | 0.9878 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/M | 0.9833 | likely_pathogenic | 0.9941 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/N | 0.9764 | likely_pathogenic | 0.992 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/P | 0.9926 | likely_pathogenic | 0.9967 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Q | 0.9877 | likely_pathogenic | 0.9948 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/R | 0.9811 | likely_pathogenic | 0.9904 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.616387775 | None | None | I |
| G/S | 0.6629 | likely_pathogenic | 0.8627 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/T | 0.9004 | likely_pathogenic | 0.9665 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/V | 0.8948 | likely_pathogenic | 0.9518 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.632407136 | None | None | I |
| G/W | 0.98 | likely_pathogenic | 0.9909 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9789 | likely_pathogenic | 0.9909 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | 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.