Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20315 | 61168;61169;61170 | chr2:178590782;178590781;178590780 | chr2:179455509;179455508;179455507 |
| N2AB | 18674 | 56245;56246;56247 | chr2:178590782;178590781;178590780 | chr2:179455509;179455508;179455507 |
| N2A | 17747 | 53464;53465;53466 | chr2:178590782;178590781;178590780 | chr2:179455509;179455508;179455507 |
| N2B | 11250 | 33973;33974;33975 | chr2:178590782;178590781;178590780 | chr2:179455509;179455508;179455507 |
| Novex-1 | 11375 | 34348;34349;34350 | chr2:178590782;178590781;178590780 | chr2:179455509;179455508;179455507 |
| Novex-2 | 11442 | 34549;34550;34551 | chr2:178590782;178590781;178590780 | chr2:179455509;179455508;179455507 |
| 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/C | None | None | 1.0 | N | 0.735 | 0.457 | 0.765205214495 | gnomAD-4.0.0 | 1.60829E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90023E-06 | 0 | 0 |
| G/D | rs765839032  |
-0.543 | 1.0 | N | 0.609 | 0.428 | 0.241078983079 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| G/D | rs765839032 |
-0.543 | 1.0 | N | 0.609 | 0.428 | 0.241078983079 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs765839032 |
-0.543 | 1.0 | N | 0.609 | 0.428 | 0.241078983079 | gnomAD-4.0.0 | 2.17837E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.97973E-05 | 0 | 0 |
| G/V | rs765839032 |
-0.233 | 1.0 | N | 0.713 | 0.405 | 0.723284658671 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 9.19118E-04 |
| G/V | rs765839032 |
-0.233 | 1.0 | N | 0.713 | 0.405 | 0.723284658671 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/V | rs765839032 |
-0.233 | 1.0 | N | 0.713 | 0.405 | 0.723284658671 | gnomAD-4.0.0 | 8.71347E-06 | None | None | None | None | N | None | 1.33754E-05 | 1.67325E-05 | None | 0 | 0 | None | 0 | 0 | 9.36487E-06 | 0 | 1.60989E-05 |
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 | 0.2671 | likely_benign | 0.3598 | ambiguous | -0.482 | Destabilizing | 1.0 | D | 0.535 | neutral | N | 0.517342651 | None | None | N |
| G/C | 0.4373 | ambiguous | 0.5343 | ambiguous | -0.775 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.513867491 | None | None | N |
| G/D | 0.6076 | likely_pathogenic | 0.647 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.484016725 | None | None | N |
| G/E | 0.6056 | likely_pathogenic | 0.6797 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| G/F | 0.8904 | likely_pathogenic | 0.932 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/H | 0.7231 | likely_pathogenic | 0.7828 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| G/I | 0.7812 | likely_pathogenic | 0.8659 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/K | 0.7588 | likely_pathogenic | 0.8106 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/L | 0.7347 | likely_pathogenic | 0.8224 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/M | 0.7782 | likely_pathogenic | 0.8557 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/N | 0.525 | ambiguous | 0.5933 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| G/P | 0.9581 | likely_pathogenic | 0.9712 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/Q | 0.602 | likely_pathogenic | 0.6759 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/R | 0.5974 | likely_pathogenic | 0.6687 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.512494192 | None | None | N |
| G/S | 0.1676 | likely_benign | 0.212 | benign | -0.794 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.489979905 | None | None | N |
| G/T | 0.4205 | ambiguous | 0.5408 | ambiguous | -0.852 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| G/V | 0.6159 | likely_pathogenic | 0.743 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.519729596 | None | None | N |
| G/W | 0.739 | likely_pathogenic | 0.8059 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/Y | 0.7898 | likely_pathogenic | 0.8462 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | 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.