Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24524 | 73795;73796;73797 | chr2:178572562;178572561;178572560 | chr2:179437289;179437288;179437287 |
| N2AB | 22883 | 68872;68873;68874 | chr2:178572562;178572561;178572560 | chr2:179437289;179437288;179437287 |
| N2A | 21956 | 66091;66092;66093 | chr2:178572562;178572561;178572560 | chr2:179437289;179437288;179437287 |
| N2B | 15459 | 46600;46601;46602 | chr2:178572562;178572561;178572560 | chr2:179437289;179437288;179437287 |
| Novex-1 | 15584 | 46975;46976;46977 | chr2:178572562;178572561;178572560 | chr2:179437289;179437288;179437287 |
| Novex-2 | 15651 | 47176;47177;47178 | chr2:178572562;178572561;178572560 | chr2:179437289;179437288;179437287 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.979 | N | 0.554 | 0.224 | 0.341460817117 | 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 |
| Q/K | rs753429609  |
None | 0.991 | N | 0.596 | 0.316 | 0.353125101423 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1809 | likely_benign | 0.1844 | benign | -0.558 | Destabilizing | 0.992 | D | 0.678 | prob.neutral | None | None | None | None | N |
| Q/C | 0.4091 | ambiguous | 0.4199 | ambiguous | 0.14 | Stabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | N |
| Q/D | 0.5878 | likely_pathogenic | 0.5754 | pathogenic | -0.776 | Destabilizing | 0.991 | D | 0.594 | neutral | None | None | None | None | N |
| Q/E | 0.1226 | likely_benign | 0.1188 | benign | -0.679 | Destabilizing | 0.979 | D | 0.554 | neutral | N | 0.4483495 | None | None | N |
| Q/F | 0.6297 | likely_pathogenic | 0.6443 | pathogenic | -0.174 | Destabilizing | 0.996 | D | 0.821 | deleterious | None | None | None | None | N |
| Q/G | 0.2542 | likely_benign | 0.2389 | benign | -0.927 | Destabilizing | 0.997 | D | 0.765 | deleterious | None | None | None | None | N |
| Q/H | 0.2248 | likely_benign | 0.2283 | benign | -0.946 | Destabilizing | 0.997 | D | 0.587 | neutral | N | 0.509323388 | None | None | N |
| Q/I | 0.2331 | likely_benign | 0.2563 | benign | 0.393 | Stabilizing | 0.42 | N | 0.535 | neutral | None | None | None | None | N |
| Q/K | 0.0888 | likely_benign | 0.0881 | benign | -0.642 | Destabilizing | 0.991 | D | 0.596 | neutral | N | 0.470034281 | None | None | N |
| Q/L | 0.1066 | likely_benign | 0.1117 | benign | 0.393 | Stabilizing | 0.784 | D | 0.719 | prob.delet. | N | 0.451872595 | None | None | N |
| Q/M | 0.265 | likely_benign | 0.2791 | benign | 0.834 | Stabilizing | 0.994 | D | 0.592 | neutral | None | None | None | None | N |
| Q/N | 0.3351 | likely_benign | 0.3527 | ambiguous | -1.026 | Destabilizing | 0.997 | D | 0.585 | neutral | None | None | None | None | N |
| Q/P | 0.5496 | ambiguous | 0.45 | ambiguous | 0.107 | Stabilizing | 0.997 | D | 0.757 | deleterious | N | 0.497740957 | None | None | N |
| Q/R | 0.0908 | likely_benign | 0.09 | benign | -0.65 | Destabilizing | 0.986 | D | 0.591 | neutral | N | 0.450947088 | None | None | N |
| Q/S | 0.2352 | likely_benign | 0.2454 | benign | -1.053 | Destabilizing | 0.997 | D | 0.573 | neutral | None | None | None | None | N |
| Q/T | 0.1672 | likely_benign | 0.1777 | benign | -0.781 | Destabilizing | 0.821 | D | 0.693 | prob.neutral | None | None | None | None | N |
| Q/V | 0.1423 | likely_benign | 0.1567 | benign | 0.107 | Stabilizing | 0.778 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Q/W | 0.6122 | likely_pathogenic | 0.5807 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| Q/Y | 0.454 | ambiguous | 0.4537 | ambiguous | 0.043 | Stabilizing | 0.999 | D | 0.756 | 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.