Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16946 | 51061;51062;51063 | chr2:178611393;178611392;178611391 | chr2:179476120;179476119;179476118 |
| N2AB | 15305 | 46138;46139;46140 | chr2:178611393;178611392;178611391 | chr2:179476120;179476119;179476118 |
| N2A | 14378 | 43357;43358;43359 | chr2:178611393;178611392;178611391 | chr2:179476120;179476119;179476118 |
| N2B | 7881 | 23866;23867;23868 | chr2:178611393;178611392;178611391 | chr2:179476120;179476119;179476118 |
| Novex-1 | 8006 | 24241;24242;24243 | chr2:178611393;178611392;178611391 | chr2:179476120;179476119;179476118 |
| Novex-2 | 8073 | 24442;24443;24444 | chr2:178611393;178611392;178611391 | chr2:179476120;179476119;179476118 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1179860102  |
None | 0.997 | D | 0.63 | 0.364 | 0.647653543843 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/A | rs1179860102 |
None | 0.997 | D | 0.63 | 0.364 | 0.647653543843 | gnomAD-4.0.0 | 2.48026E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39181E-06 | 0 | 0 |
| V/M | None | None | 0.999 | D | 0.712 | 0.332 | 0.562502419844 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4939 | ambiguous | 0.5251 | ambiguous | -1.714 | Destabilizing | 0.997 | D | 0.63 | neutral | D | 0.651980259 | None | None | N |
| V/C | 0.877 | likely_pathogenic | 0.889 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| V/D | 0.9529 | likely_pathogenic | 0.9555 | pathogenic | -1.83 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| V/E | 0.8732 | likely_pathogenic | 0.8865 | pathogenic | -1.727 | Destabilizing | 0.999 | D | 0.85 | deleterious | D | 0.652106588 | None | None | N |
| V/F | 0.4906 | ambiguous | 0.5403 | ambiguous | -1.07 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| V/G | 0.7722 | likely_pathogenic | 0.7863 | pathogenic | -2.143 | Highly Destabilizing | 0.999 | D | 0.818 | deleterious | D | 0.653797191 | None | None | N |
| V/H | 0.9276 | likely_pathogenic | 0.9395 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/I | 0.0949 | likely_benign | 0.101 | benign | -0.583 | Destabilizing | 0.995 | D | 0.583 | neutral | None | None | None | None | N |
| V/K | 0.8645 | likely_pathogenic | 0.8869 | pathogenic | -1.551 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| V/L | 0.553 | ambiguous | 0.5861 | pathogenic | -0.583 | Destabilizing | 0.994 | D | 0.592 | neutral | D | 0.537538589 | None | None | N |
| V/M | 0.3781 | ambiguous | 0.4152 | ambiguous | -0.472 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | D | 0.652628882 | None | None | N |
| V/N | 0.8949 | likely_pathogenic | 0.9037 | pathogenic | -1.548 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| V/P | 0.9748 | likely_pathogenic | 0.9745 | pathogenic | -0.927 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Q | 0.8299 | likely_pathogenic | 0.844 | pathogenic | -1.57 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| V/R | 0.8166 | likely_pathogenic | 0.8473 | pathogenic | -1.144 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| V/S | 0.777 | likely_pathogenic | 0.7934 | pathogenic | -2.13 | Highly Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| V/T | 0.445 | ambiguous | 0.4788 | ambiguous | -1.903 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | N |
| V/W | 0.9651 | likely_pathogenic | 0.9721 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/Y | 0.8888 | likely_pathogenic | 0.9063 | pathogenic | -1.088 | Destabilizing | 0.999 | D | 0.807 | 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.