Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3362 | 10309;10310;10311 | chr2:178764207;178764206;178764205 | chr2:179628934;179628933;179628932 |
| N2AB | 3362 | 10309;10310;10311 | chr2:178764207;178764206;178764205 | chr2:179628934;179628933;179628932 |
| N2A | 3362 | 10309;10310;10311 | chr2:178764207;178764206;178764205 | chr2:179628934;179628933;179628932 |
| N2B | 3316 | 10171;10172;10173 | chr2:178764207;178764206;178764205 | chr2:179628934;179628933;179628932 |
| Novex-1 | 3316 | 10171;10172;10173 | chr2:178764207;178764206;178764205 | chr2:179628934;179628933;179628932 |
| Novex-2 | 3316 | 10171;10172;10173 | chr2:178764207;178764206;178764205 | chr2:179628934;179628933;179628932 |
| Novex-3 | 3362 | 10309;10310;10311 | chr2:178764207;178764206;178764205 | chr2:179628934;179628933;179628932 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs2089943424  |
None | 0.977 | D | 0.61 | 0.64 | 0.503374072614 | gnomAD-4.0.0 | 1.5906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77346E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | None | None | 0.997 | D | 0.848 | 0.704 | 0.584274139494 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7168 | likely_pathogenic | 0.6909 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/D | 0.97 | likely_pathogenic | 0.9783 | pathogenic | -1.946 | Destabilizing | 0.993 | D | 0.835 | deleterious | D | 0.759504757 | None | None | N |
| A/E | 0.9366 | likely_pathogenic | 0.9534 | pathogenic | -1.858 | Destabilizing | 0.995 | D | 0.817 | deleterious | None | None | None | None | N |
| A/F | 0.8691 | likely_pathogenic | 0.8808 | pathogenic | -0.898 | Destabilizing | 0.998 | D | 0.867 | deleterious | None | None | None | None | N |
| A/G | 0.3456 | ambiguous | 0.3967 | ambiguous | -1.523 | Destabilizing | 0.977 | D | 0.61 | neutral | D | 0.671971628 | None | None | N |
| A/H | 0.9674 | likely_pathogenic | 0.9732 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/I | 0.5482 | ambiguous | 0.5347 | ambiguous | -0.159 | Destabilizing | 0.995 | D | 0.839 | deleterious | None | None | None | None | N |
| A/K | 0.9742 | likely_pathogenic | 0.9801 | pathogenic | -1.336 | Destabilizing | 0.995 | D | 0.824 | deleterious | None | None | None | None | N |
| A/L | 0.5477 | ambiguous | 0.5431 | ambiguous | -0.159 | Destabilizing | 0.966 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/M | 0.6636 | likely_pathogenic | 0.6587 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/N | 0.937 | likely_pathogenic | 0.9483 | pathogenic | -1.317 | Destabilizing | 0.995 | D | 0.837 | deleterious | None | None | None | None | N |
| A/P | 0.9661 | likely_pathogenic | 0.9632 | pathogenic | -0.441 | Destabilizing | 0.997 | D | 0.848 | deleterious | D | 0.700428159 | None | None | N |
| A/Q | 0.9167 | likely_pathogenic | 0.9301 | pathogenic | -1.315 | Destabilizing | 0.998 | D | 0.851 | deleterious | None | None | None | None | N |
| A/R | 0.9394 | likely_pathogenic | 0.9484 | pathogenic | -1.2 | Destabilizing | 0.995 | D | 0.846 | deleterious | None | None | None | None | N |
| A/S | 0.2072 | likely_benign | 0.2283 | benign | -1.738 | Destabilizing | 0.955 | D | 0.579 | neutral | D | 0.671463978 | None | None | N |
| A/T | 0.2227 | likely_benign | 0.2069 | benign | -1.539 | Destabilizing | 0.568 | D | 0.374 | neutral | D | 0.525356685 | None | None | N |
| A/V | 0.2316 | likely_benign | 0.2071 | benign | -0.441 | Destabilizing | 0.955 | D | 0.625 | neutral | N | 0.489195668 | None | None | N |
| A/W | 0.9908 | likely_pathogenic | 0.9916 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/Y | 0.9616 | likely_pathogenic | 0.9683 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.868 | 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.