Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14454 | 43585;43586;43587 | chr2:178632646;178632645;178632644 | chr2:179497373;179497372;179497371 |
| N2AB | 12813 | 38662;38663;38664 | chr2:178632646;178632645;178632644 | chr2:179497373;179497372;179497371 |
| N2A | 11886 | 35881;35882;35883 | chr2:178632646;178632645;178632644 | chr2:179497373;179497372;179497371 |
| N2B | 5389 | 16390;16391;16392 | chr2:178632646;178632645;178632644 | chr2:179497373;179497372;179497371 |
| Novex-1 | 5514 | 16765;16766;16767 | chr2:178632646;178632645;178632644 | chr2:179497373;179497372;179497371 |
| Novex-2 | 5581 | 16966;16967;16968 | chr2:178632646;178632645;178632644 | chr2:179497373;179497372;179497371 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs878912118  |
-0.873 | 0.996 | N | 0.392 | 0.173 | 0.392239652056 | 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 |
| E/D | rs878912118 |
-0.873 | 0.996 | N | 0.392 | 0.173 | 0.392239652056 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/D | rs878912118 |
-0.873 | 0.996 | N | 0.392 | 0.173 | 0.392239652056 | gnomAD-4.0.0 | 6.84319E-07 | None | None | None | None | N | None | 0 | 2.23654E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | None | None | 0.999 | N | 0.651 | 0.429 | 0.528009843598 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1937 | likely_benign | 0.1843 | benign | -0.949 | Destabilizing | 0.996 | D | 0.571 | neutral | D | 0.529235897 | None | None | N |
| E/C | 0.844 | likely_pathogenic | 0.8257 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/D | 0.198 | likely_benign | 0.1856 | benign | -0.721 | Destabilizing | 0.996 | D | 0.392 | neutral | N | 0.507670374 | None | None | N |
| E/F | 0.714 | likely_pathogenic | 0.6808 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| E/G | 0.2432 | likely_benign | 0.2397 | benign | -1.271 | Destabilizing | 0.999 | D | 0.651 | neutral | N | 0.508716885 | None | None | N |
| E/H | 0.396 | ambiguous | 0.3722 | ambiguous | -0.529 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| E/I | 0.3189 | likely_benign | 0.31 | benign | -0.078 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| E/K | 0.1522 | likely_benign | 0.1518 | benign | -0.164 | Destabilizing | 0.992 | D | 0.451 | neutral | N | 0.502583266 | None | None | N |
| E/L | 0.3867 | ambiguous | 0.3688 | ambiguous | -0.078 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| E/M | 0.4591 | ambiguous | 0.4341 | ambiguous | 0.304 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| E/N | 0.3173 | likely_benign | 0.303 | benign | -0.711 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| E/P | 0.8929 | likely_pathogenic | 0.8865 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/Q | 0.125 | likely_benign | 0.1198 | benign | -0.614 | Destabilizing | 0.957 | D | 0.262 | neutral | N | 0.509101089 | None | None | N |
| E/R | 0.2474 | likely_benign | 0.2377 | benign | 0.065 | Stabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| E/S | 0.2079 | likely_benign | 0.1992 | benign | -0.984 | Destabilizing | 0.997 | D | 0.544 | neutral | None | None | None | None | N |
| E/T | 0.2116 | likely_benign | 0.2009 | benign | -0.703 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/V | 0.2065 | likely_benign | 0.1971 | benign | -0.348 | Destabilizing | 0.999 | D | 0.743 | deleterious | N | 0.510762249 | None | None | N |
| E/W | 0.8849 | likely_pathogenic | 0.8629 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| E/Y | 0.5944 | likely_pathogenic | 0.5633 | ambiguous | -0.11 | Destabilizing | 1.0 | D | 0.759 | 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.