Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28138 | 84637;84638;84639 | chr2:178561720;178561719;178561718 | chr2:179426447;179426446;179426445 |
| N2AB | 26497 | 79714;79715;79716 | chr2:178561720;178561719;178561718 | chr2:179426447;179426446;179426445 |
| N2A | 25570 | 76933;76934;76935 | chr2:178561720;178561719;178561718 | chr2:179426447;179426446;179426445 |
| N2B | 19073 | 57442;57443;57444 | chr2:178561720;178561719;178561718 | chr2:179426447;179426446;179426445 |
| Novex-1 | 19198 | 57817;57818;57819 | chr2:178561720;178561719;178561718 | chr2:179426447;179426446;179426445 |
| Novex-2 | 19265 | 58018;58019;58020 | chr2:178561720;178561719;178561718 | chr2:179426447;179426446;179426445 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs975160153  |
-1.365 | 0.999 | D | 0.743 | 0.359 | 0.391000631824 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 5.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs975160153 |
-1.365 | 0.999 | D | 0.743 | 0.359 | 0.391000631824 | gnomAD-4.0.0 | 4.79356E-06 | None | None | None | None | N | None | 0 | 4.58863E-05 | None | 0 | 0 | None | 0 | 0 | 2.87147E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4344 | ambiguous | 0.3539 | ambiguous | -0.956 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| S/C | 0.6825 | likely_pathogenic | 0.6113 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.548793143 | None | None | N |
| S/D | 0.9638 | likely_pathogenic | 0.9621 | pathogenic | -1.374 | Destabilizing | 0.999 | D | 0.784 | deleterious | None | None | None | None | N |
| S/E | 0.9906 | likely_pathogenic | 0.9886 | pathogenic | -1.28 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| S/F | 0.9818 | likely_pathogenic | 0.9768 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| S/G | 0.117 | likely_benign | 0.1078 | benign | -1.265 | Destabilizing | 0.999 | D | 0.757 | deleterious | N | 0.422560047 | None | None | N |
| S/H | 0.9753 | likely_pathogenic | 0.9721 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| S/I | 0.9807 | likely_pathogenic | 0.974 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.536929858 | None | None | N |
| S/K | 0.9978 | likely_pathogenic | 0.997 | pathogenic | -0.815 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| S/L | 0.9286 | likely_pathogenic | 0.8985 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/M | 0.9552 | likely_pathogenic | 0.9391 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| S/N | 0.8809 | likely_pathogenic | 0.86 | pathogenic | -1.135 | Destabilizing | 0.999 | D | 0.743 | deleterious | D | 0.536676369 | None | None | N |
| S/P | 0.9889 | likely_pathogenic | 0.9829 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| S/Q | 0.9883 | likely_pathogenic | 0.9832 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| S/R | 0.9958 | likely_pathogenic | 0.9945 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.535662411 | None | None | N |
| S/T | 0.6412 | likely_pathogenic | 0.6184 | pathogenic | -0.964 | Destabilizing | 0.999 | D | 0.743 | deleterious | D | 0.52967493 | None | None | N |
| S/V | 0.9726 | likely_pathogenic | 0.9628 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| S/W | 0.9851 | likely_pathogenic | 0.981 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| S/Y | 0.962 | likely_pathogenic | 0.947 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.899 | 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.