Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25137 | 75634;75635;75636 | chr2:178570723;178570722;178570721 | chr2:179435450;179435449;179435448 |
| N2AB | 23496 | 70711;70712;70713 | chr2:178570723;178570722;178570721 | chr2:179435450;179435449;179435448 |
| N2A | 22569 | 67930;67931;67932 | chr2:178570723;178570722;178570721 | chr2:179435450;179435449;179435448 |
| N2B | 16072 | 48439;48440;48441 | chr2:178570723;178570722;178570721 | chr2:179435450;179435449;179435448 |
| Novex-1 | 16197 | 48814;48815;48816 | chr2:178570723;178570722;178570721 | chr2:179435450;179435449;179435448 |
| Novex-2 | 16264 | 49015;49016;49017 | chr2:178570723;178570722;178570721 | chr2:179435450;179435449;179435448 |
| 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/A | rs369755096  |
-0.576 | 1.0 | D | 0.695 | 0.767 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 2.48036E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs369755096 |
-0.576 | 1.0 | D | 0.695 | 0.767 | None | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 2.89729E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs369755096 |
-0.576 | 1.0 | D | 0.695 | 0.767 | None | gnomAD-4.0.0 | 1.11565E-05 | None | None | None | None | N | None | 2.40423E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.7764 | likely_pathogenic | 0.7795 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.584127606 | None | None | N |
| G/C | 0.9436 | likely_pathogenic | 0.9407 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.653241233 | None | None | N |
| G/D | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.652030408 | None | None | N |
| G/E | 0.9968 | likely_pathogenic | 0.9967 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/F | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/H | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/I | 0.9953 | likely_pathogenic | 0.995 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/K | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/L | 0.9946 | likely_pathogenic | 0.9942 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/M | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/N | 0.9969 | likely_pathogenic | 0.9963 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/Q | 0.9959 | likely_pathogenic | 0.9955 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/R | 0.9905 | likely_pathogenic | 0.9906 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.652837625 | None | None | N |
| G/S | 0.8308 | likely_pathogenic | 0.8096 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.606960105 | None | None | N |
| G/T | 0.9847 | likely_pathogenic | 0.9813 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/V | 0.9887 | likely_pathogenic | 0.9878 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.652837625 | None | None | N |
| G/W | 0.9945 | likely_pathogenic | 0.9949 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9974 | likely_pathogenic | 0.9973 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.802 | 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.