Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27371 | 82336;82337;82338 | chr2:178564021;178564020;178564019 | chr2:179428748;179428747;179428746 |
| N2AB | 25730 | 77413;77414;77415 | chr2:178564021;178564020;178564019 | chr2:179428748;179428747;179428746 |
| N2A | 24803 | 74632;74633;74634 | chr2:178564021;178564020;178564019 | chr2:179428748;179428747;179428746 |
| N2B | 18306 | 55141;55142;55143 | chr2:178564021;178564020;178564019 | chr2:179428748;179428747;179428746 |
| Novex-1 | 18431 | 55516;55517;55518 | chr2:178564021;178564020;178564019 | chr2:179428748;179428747;179428746 |
| Novex-2 | 18498 | 55717;55718;55719 | chr2:178564021;178564020;178564019 | chr2:179428748;179428747;179428746 |
| 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/E | rs766785319  |
-2.023 | 1.0 | N | 0.867 | 0.521 | 0.499858025796 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/E | rs766785319 |
-2.023 | 1.0 | N | 0.867 | 0.521 | 0.499858025796 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 4.3956E-03 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs766785319 |
-2.023 | 1.0 | N | 0.867 | 0.521 | 0.499858025796 | gnomAD-4.0.0 | 1.11554E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10195E-05 | 0 | 1.60108E-05 |
| G/R | rs1019913774 |
None | 1.0 | N | 0.861 | 0.518 | 0.657455092868 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1019913774 |
None | 1.0 | N | 0.861 | 0.518 | 0.657455092868 | gnomAD-4.0.0 | 6.57419E-06 | None | None | None | None | N | None | 2.41383E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4325 | ambiguous | 0.4195 | ambiguous | -0.848 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.524818949 | None | None | N |
| G/C | 0.6852 | likely_pathogenic | 0.665 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/D | 0.9135 | likely_pathogenic | 0.8966 | pathogenic | -2.497 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/E | 0.8716 | likely_pathogenic | 0.8631 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.501181286 | None | None | N |
| G/F | 0.923 | likely_pathogenic | 0.9261 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/H | 0.9509 | likely_pathogenic | 0.9476 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/I | 0.8551 | likely_pathogenic | 0.8564 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/K | 0.954 | likely_pathogenic | 0.9478 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/L | 0.8349 | likely_pathogenic | 0.8271 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/M | 0.8926 | likely_pathogenic | 0.8878 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/N | 0.9039 | likely_pathogenic | 0.8876 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/P | 0.9907 | likely_pathogenic | 0.9901 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/Q | 0.8949 | likely_pathogenic | 0.8913 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.9036 | likely_pathogenic | 0.9025 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.514312018 | None | None | N |
| G/S | 0.3289 | likely_benign | 0.3182 | benign | -1.42 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/T | 0.7217 | likely_pathogenic | 0.7021 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/V | 0.7781 | likely_pathogenic | 0.7778 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.526339886 | None | None | N |
| G/W | 0.9195 | likely_pathogenic | 0.922 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.526846865 | None | None | N |
| G/Y | 0.9239 | likely_pathogenic | 0.9225 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.854 | 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.