Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7910 | 23953;23954;23955 | chr2:178719764;178719763;178719762 | chr2:179584491;179584490;179584489 |
| N2AB | 7593 | 23002;23003;23004 | chr2:178719764;178719763;178719762 | chr2:179584491;179584490;179584489 |
| N2A | 6666 | 20221;20222;20223 | chr2:178719764;178719763;178719762 | chr2:179584491;179584490;179584489 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs763596594  |
None | 0.997 | D | 0.877 | 0.484 | 0.848056490861 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31906E-05 | 0 |
| C/G | None | None | 0.999 | D | 0.879 | 0.494 | 0.866244543547 | gnomAD-4.0.0 | 6.84298E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99564E-07 | 0 | 0 |
| C/R | rs1577982173 |
None | 0.999 | D | 0.909 | 0.501 | 0.867620490056 | gnomAD-4.0.0 | 4.10579E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.51164E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs763596594 |
-1.363 | 0.999 | D | 0.88 | 0.485 | 0.805304863586 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs763596594 |
-1.363 | 0.999 | D | 0.88 | 0.485 | 0.805304863586 | gnomAD-4.0.0 | 6.8429E-07 | None | None | None | None | N | None | 0 | 2.23624E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6902 | likely_pathogenic | 0.7451 | pathogenic | -1.225 | Destabilizing | 0.964 | D | 0.684 | prob.neutral | None | None | None | None | N |
| C/D | 0.9969 | likely_pathogenic | 0.996 | pathogenic | -1.564 | Destabilizing | 0.999 | D | 0.907 | deleterious | None | None | None | None | N |
| C/E | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -1.291 | Destabilizing | 0.999 | D | 0.905 | deleterious | None | None | None | None | N |
| C/F | 0.7296 | likely_pathogenic | 0.6346 | pathogenic | -0.693 | Destabilizing | 0.997 | D | 0.877 | deleterious | D | 0.564053923 | None | None | N |
| C/G | 0.6123 | likely_pathogenic | 0.6092 | pathogenic | -1.597 | Destabilizing | 0.999 | D | 0.879 | deleterious | D | 0.537555877 | None | None | N |
| C/H | 0.9927 | likely_pathogenic | 0.9895 | pathogenic | -1.912 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| C/I | 0.6736 | likely_pathogenic | 0.6838 | pathogenic | -0.21 | Destabilizing | 0.971 | D | 0.765 | deleterious | None | None | None | None | N |
| C/K | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.741 | Destabilizing | 0.999 | D | 0.906 | deleterious | None | None | None | None | N |
| C/L | 0.791 | likely_pathogenic | 0.7736 | pathogenic | -0.21 | Destabilizing | 0.931 | D | 0.756 | deleterious | None | None | None | None | N |
| C/M | 0.8626 | likely_pathogenic | 0.8512 | pathogenic | 0.164 | Stabilizing | 0.998 | D | 0.814 | deleterious | None | None | None | None | N |
| C/N | 0.9847 | likely_pathogenic | 0.9794 | pathogenic | -1.566 | Destabilizing | 0.999 | D | 0.903 | deleterious | None | None | None | None | N |
| C/P | 0.9985 | likely_pathogenic | 0.9981 | pathogenic | -0.526 | Destabilizing | 0.999 | D | 0.901 | deleterious | None | None | None | None | N |
| C/Q | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -0.969 | Destabilizing | 0.999 | D | 0.919 | deleterious | None | None | None | None | N |
| C/R | 0.9905 | likely_pathogenic | 0.9895 | pathogenic | -1.396 | Destabilizing | 0.999 | D | 0.909 | deleterious | D | 0.564307413 | None | None | N |
| C/S | 0.848 | likely_pathogenic | 0.8399 | pathogenic | -1.745 | Destabilizing | 0.99 | D | 0.819 | deleterious | N | 0.519616206 | None | None | N |
| C/T | 0.8254 | likely_pathogenic | 0.8468 | pathogenic | -1.282 | Destabilizing | 0.985 | D | 0.811 | deleterious | None | None | None | None | N |
| C/V | 0.4841 | ambiguous | 0.5013 | ambiguous | -0.526 | Destabilizing | 0.469 | N | 0.605 | neutral | None | None | None | None | N |
| C/W | 0.9725 | likely_pathogenic | 0.9551 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.564307413 | None | None | N |
| C/Y | 0.8929 | likely_pathogenic | 0.7972 | pathogenic | -0.915 | Destabilizing | 0.999 | D | 0.88 | deleterious | D | 0.541176728 | 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.