Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1868 | 5827;5828;5829 | chr2:178776262;178776261;178776260 | chr2:179640989;179640988;179640987 |
| N2AB | 1868 | 5827;5828;5829 | chr2:178776262;178776261;178776260 | chr2:179640989;179640988;179640987 |
| N2A | 1868 | 5827;5828;5829 | chr2:178776262;178776261;178776260 | chr2:179640989;179640988;179640987 |
| N2B | 1822 | 5689;5690;5691 | chr2:178776262;178776261;178776260 | chr2:179640989;179640988;179640987 |
| Novex-1 | 1822 | 5689;5690;5691 | chr2:178776262;178776261;178776260 | chr2:179640989;179640988;179640987 |
| Novex-2 | 1822 | 5689;5690;5691 | chr2:178776262;178776261;178776260 | chr2:179640989;179640988;179640987 |
| Novex-3 | 1868 | 5827;5828;5829 | chr2:178776262;178776261;178776260 | chr2:179640989;179640988;179640987 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | -0.954 | 1.0 | D | 0.801 | 0.62 | 0.544432747571 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| P/H | None | -0.954 | 1.0 | D | 0.801 | 0.62 | 0.544432747571 | gnomAD-4.0.0 | 1.5906E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85659E-06 | 0 | 0 |
| P/L | rs773566945  |
None | 1.0 | D | 0.769 | 0.569 | 0.702021384705 | gnomAD-4.0.0 | 1.5906E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85659E-06 | 0 | 0 |
| P/R | rs773566945 |
-0.382 | 1.0 | D | 0.801 | 0.639 | 0.540879910095 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| P/R | rs773566945 |
-0.382 | 1.0 | D | 0.801 | 0.639 | 0.540879910095 | gnomAD-4.0.0 | 1.5906E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77254E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9681 | likely_pathogenic | 0.969 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.659067094 | None | None | I |
| P/C | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| P/D | 0.997 | likely_pathogenic | 0.9973 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/E | 0.9933 | likely_pathogenic | 0.9942 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/F | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| P/G | 0.9903 | likely_pathogenic | 0.9905 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/H | 0.9934 | likely_pathogenic | 0.9946 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.699108419 | None | None | I |
| P/I | 0.9908 | likely_pathogenic | 0.992 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| P/K | 0.9957 | likely_pathogenic | 0.9967 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/L | 0.971 | likely_pathogenic | 0.9731 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.731454307 | None | None | I |
| P/M | 0.9958 | likely_pathogenic | 0.9955 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| P/N | 0.9957 | likely_pathogenic | 0.9961 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| P/Q | 0.9893 | likely_pathogenic | 0.9907 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/R | 0.9862 | likely_pathogenic | 0.9905 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.697857961 | None | None | I |
| P/S | 0.9881 | likely_pathogenic | 0.989 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.674829365 | None | None | I |
| P/T | 0.9768 | likely_pathogenic | 0.9792 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.731565009 | None | None | I |
| P/V | 0.9803 | likely_pathogenic | 0.9831 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/W | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/Y | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -1.0 | 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.