Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32466 | 97621;97622;97623 | chr2:178542360;178542359;178542358 | chr2:179407087;179407086;179407085 |
| N2AB | 30825 | 92698;92699;92700 | chr2:178542360;178542359;178542358 | chr2:179407087;179407086;179407085 |
| N2A | 29898 | 89917;89918;89919 | chr2:178542360;178542359;178542358 | chr2:179407087;179407086;179407085 |
| N2B | 23401 | 70426;70427;70428 | chr2:178542360;178542359;178542358 | chr2:179407087;179407086;179407085 |
| Novex-1 | 23526 | 70801;70802;70803 | chr2:178542360;178542359;178542358 | chr2:179407087;179407086;179407085 |
| Novex-2 | 23593 | 71002;71003;71004 | chr2:178542360;178542359;178542358 | chr2:179407087;179407086;179407085 |
| 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/K | rs55915651  |
0.783 | 1.0 | N | 0.678 | 0.434 | 0.483224754729 | gnomAD-2.1.1 | 8.23E-05 | None | None | None | None | N | None | 0 | 8.5E-05 | None | 0 | 6.18365E-04 | None | 3.27E-05 | None | 0 | 4.7E-05 | 1.40647E-04 |
| E/K | rs55915651 |
0.783 | 1.0 | N | 0.678 | 0.434 | 0.483224754729 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.8117E-04 | None | 9.43E-05 | 0 | 2.94E-05 | 0 | 0 |
| E/K | rs55915651 |
0.783 | 1.0 | N | 0.678 | 0.434 | 0.483224754729 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| E/K | rs55915651 |
0.783 | 1.0 | N | 0.678 | 0.434 | 0.483224754729 | gnomAD-4.0.0 | 4.02855E-05 | None | None | None | None | N | None | 0 | 5.00117E-05 | None | 0 | 4.2441E-04 | None | 6.25117E-05 | 0 | 3.22123E-05 | 1.09825E-05 | 0 |
| E/Q | None | None | 1.0 | N | 0.661 | 0.385 | 0.356072328145 | gnomAD-4.0.0 | 6.84307E-07 | None | None | None | None | N | None | 2.98864E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3729 | ambiguous | 0.2889 | benign | -0.277 | Destabilizing | 0.999 | D | 0.633 | neutral | N | 0.488387968 | None | None | N |
| E/C | 0.9674 | likely_pathogenic | 0.9435 | pathogenic | 0.347 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| E/D | 0.4777 | ambiguous | 0.3625 | ambiguous | -0.34 | Destabilizing | 0.999 | D | 0.582 | neutral | N | 0.477257815 | None | None | N |
| E/F | 0.9811 | likely_pathogenic | 0.9615 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| E/G | 0.5988 | likely_pathogenic | 0.4744 | ambiguous | -0.464 | Destabilizing | 1.0 | D | 0.579 | neutral | N | 0.487221768 | None | None | N |
| E/H | 0.8987 | likely_pathogenic | 0.8171 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| E/I | 0.7998 | likely_pathogenic | 0.7132 | pathogenic | 0.17 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| E/K | 0.471 | ambiguous | 0.3686 | ambiguous | 0.428 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.491468346 | None | None | N |
| E/L | 0.8577 | likely_pathogenic | 0.7775 | pathogenic | 0.17 | Stabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | N |
| E/M | 0.8462 | likely_pathogenic | 0.7732 | pathogenic | 0.542 | Stabilizing | 1.0 | D | 0.61 | neutral | None | None | None | None | N |
| E/N | 0.7367 | likely_pathogenic | 0.6191 | pathogenic | 0.3 | Stabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| E/P | 0.7244 | likely_pathogenic | 0.6373 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | N |
| E/Q | 0.3645 | ambiguous | 0.2784 | benign | 0.295 | Stabilizing | 1.0 | D | 0.661 | neutral | N | 0.488678757 | None | None | N |
| E/R | 0.6569 | likely_pathogenic | 0.5398 | ambiguous | 0.36 | Stabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| E/S | 0.5675 | likely_pathogenic | 0.446 | ambiguous | 0.119 | Stabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| E/T | 0.5917 | likely_pathogenic | 0.4639 | ambiguous | 0.265 | Stabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| E/V | 0.5902 | likely_pathogenic | 0.4852 | ambiguous | 0.042 | Stabilizing | 1.0 | D | 0.585 | neutral | N | 0.472484875 | None | None | N |
| E/W | 0.9942 | likely_pathogenic | 0.9869 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/Y | 0.962 | likely_pathogenic | 0.9236 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.603 | neutral | 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.