Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16950 | 51073;51074;51075 | chr2:178611381;178611380;178611379 | chr2:179476108;179476107;179476106 |
| N2AB | 15309 | 46150;46151;46152 | chr2:178611381;178611380;178611379 | chr2:179476108;179476107;179476106 |
| N2A | 14382 | 43369;43370;43371 | chr2:178611381;178611380;178611379 | chr2:179476108;179476107;179476106 |
| N2B | 7885 | 23878;23879;23880 | chr2:178611381;178611380;178611379 | chr2:179476108;179476107;179476106 |
| Novex-1 | 8010 | 24253;24254;24255 | chr2:178611381;178611380;178611379 | chr2:179476108;179476107;179476106 |
| Novex-2 | 8077 | 24454;24455;24456 | chr2:178611381;178611380;178611379 | chr2:179476108;179476107;179476106 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs200700386  |
0.1 | 0.603 | N | 0.284 | 0.046 | 0.221734844693 | gnomAD-2.1.1 | 6.45E-05 | None | None | None | None | N | None | 7.44663E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs200700386 |
0.1 | 0.603 | N | 0.284 | 0.046 | 0.221734844693 | gnomAD-3.1.2 | 1.84244E-04 | None | None | None | None | N | None | 6.75904E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs200700386 |
0.1 | 0.603 | N | 0.284 | 0.046 | 0.221734844693 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/E | rs200700386 |
0.1 | 0.603 | N | 0.284 | 0.046 | 0.221734844693 | gnomAD-4.0.0 | 3.65839E-05 | None | None | None | None | N | None | 7.60426E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.2041E-05 |
| D/N | None | None | 0.999 | N | 0.757 | 0.329 | 0.3349148499 | gnomAD-4.0.0 | 3.42312E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.79925E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7986 | likely_pathogenic | 0.7812 | pathogenic | -0.136 | Destabilizing | 0.991 | D | 0.579 | neutral | N | 0.473875567 | None | None | N |
| D/C | 0.9797 | likely_pathogenic | 0.9784 | pathogenic | 0.023 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| D/E | 0.5996 | likely_pathogenic | 0.5732 | pathogenic | -0.224 | Destabilizing | 0.603 | D | 0.284 | neutral | N | 0.470153782 | None | None | N |
| D/F | 0.9443 | likely_pathogenic | 0.9326 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/G | 0.8786 | likely_pathogenic | 0.8518 | pathogenic | -0.288 | Destabilizing | 0.996 | D | 0.7 | prob.delet. | D | 0.591884875 | None | None | N |
| D/H | 0.92 | likely_pathogenic | 0.9054 | pathogenic | 0.158 | Stabilizing | 1.0 | D | 0.807 | deleterious | N | 0.51495603 | None | None | N |
| D/I | 0.9164 | likely_pathogenic | 0.8957 | pathogenic | 0.204 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/K | 0.9609 | likely_pathogenic | 0.9572 | pathogenic | 0.399 | Stabilizing | 0.998 | D | 0.71 | prob.delet. | None | None | None | None | N |
| D/L | 0.8657 | likely_pathogenic | 0.847 | pathogenic | 0.204 | Stabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | N |
| D/M | 0.9644 | likely_pathogenic | 0.9573 | pathogenic | 0.205 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/N | 0.6143 | likely_pathogenic | 0.5863 | pathogenic | 0.192 | Stabilizing | 0.999 | D | 0.757 | deleterious | N | 0.48898936 | None | None | N |
| D/P | 0.9547 | likely_pathogenic | 0.9447 | pathogenic | 0.112 | Stabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| D/Q | 0.941 | likely_pathogenic | 0.9305 | pathogenic | 0.198 | Stabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| D/R | 0.9724 | likely_pathogenic | 0.9679 | pathogenic | 0.572 | Stabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | N |
| D/S | 0.7507 | likely_pathogenic | 0.7282 | pathogenic | 0.077 | Stabilizing | 0.993 | D | 0.704 | prob.delet. | None | None | None | None | N |
| D/T | 0.9054 | likely_pathogenic | 0.8875 | pathogenic | 0.193 | Stabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| D/V | 0.8274 | likely_pathogenic | 0.7919 | pathogenic | 0.112 | Stabilizing | 0.999 | D | 0.747 | deleterious | D | 0.558015846 | None | None | N |
| D/W | 0.9901 | likely_pathogenic | 0.9872 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/Y | 0.7548 | likely_pathogenic | 0.7205 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.801 | deleterious | D | 0.558015846 | 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.