Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13887 | 41884;41885;41886 | chr2:178635665;178635664;178635663 | chr2:179500392;179500391;179500390 |
| N2AB | 12246 | 36961;36962;36963 | chr2:178635665;178635664;178635663 | chr2:179500392;179500391;179500390 |
| N2A | 11319 | 34180;34181;34182 | chr2:178635665;178635664;178635663 | chr2:179500392;179500391;179500390 |
| N2B | 4822 | 14689;14690;14691 | chr2:178635665;178635664;178635663 | chr2:179500392;179500391;179500390 |
| Novex-1 | 4947 | 15064;15065;15066 | chr2:178635665;178635664;178635663 | chr2:179500392;179500391;179500390 |
| Novex-2 | 5014 | 15265;15266;15267 | chr2:178635665;178635664;178635663 | chr2:179500392;179500391;179500390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs1388854623  |
0.072 | 1.0 | N | 0.752 | 0.411 | 0.36076525451 | gnomAD-2.1.1 | 8.73E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.96E-05 | 0 |
| P/R | rs1388854623 |
0.072 | 1.0 | N | 0.752 | 0.411 | 0.36076525451 | gnomAD-4.0.0 | 4.83038E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.33231E-06 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.795 | 0.32 | 0.269558022972 | gnomAD-4.0.0 | 1.62346E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.91102E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4345 | ambiguous | 0.3132 | benign | -0.408 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.48987608 | None | None | I |
| P/C | 0.976 | likely_pathogenic | 0.9545 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.723 | deleterious | None | None | None | None | I |
| P/D | 0.9726 | likely_pathogenic | 0.9315 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| P/E | 0.867 | likely_pathogenic | 0.7521 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| P/F | 0.9727 | likely_pathogenic | 0.9441 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| P/G | 0.915 | likely_pathogenic | 0.8481 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| P/H | 0.9144 | likely_pathogenic | 0.8062 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.721 | deleterious | N | 0.501685936 | None | None | I |
| P/I | 0.8387 | likely_pathogenic | 0.7384 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| P/K | 0.9561 | likely_pathogenic | 0.8887 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| P/L | 0.6328 | likely_pathogenic | 0.4539 | ambiguous | -0.225 | Destabilizing | 1.0 | D | 0.73 | deleterious | N | 0.452383837 | None | None | I |
| P/M | 0.8947 | likely_pathogenic | 0.8041 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| P/N | 0.9529 | likely_pathogenic | 0.8894 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/Q | 0.8317 | likely_pathogenic | 0.6477 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| P/R | 0.902 | likely_pathogenic | 0.771 | pathogenic | 0.093 | Stabilizing | 1.0 | D | 0.752 | deleterious | N | 0.497714748 | None | None | I |
| P/S | 0.7808 | likely_pathogenic | 0.6258 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.45884116 | None | None | I |
| P/T | 0.7009 | likely_pathogenic | 0.5453 | ambiguous | -0.384 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.442520539 | None | None | I |
| P/V | 0.7024 | likely_pathogenic | 0.5846 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| P/W | 0.9863 | likely_pathogenic | 0.9707 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | I |
| P/Y | 0.9568 | likely_pathogenic | 0.906 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.766 | 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.