Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34149 | 102670;102671;102672 | chr2:178534170;178534169;178534168 | chr2:179398897;179398896;179398895 |
| N2AB | 32508 | 97747;97748;97749 | chr2:178534170;178534169;178534168 | chr2:179398897;179398896;179398895 |
| N2A | 31581 | 94966;94967;94968 | chr2:178534170;178534169;178534168 | chr2:179398897;179398896;179398895 |
| N2B | 25084 | 75475;75476;75477 | chr2:178534170;178534169;178534168 | chr2:179398897;179398896;179398895 |
| Novex-1 | 25209 | 75850;75851;75852 | chr2:178534170;178534169;178534168 | chr2:179398897;179398896;179398895 |
| Novex-2 | 25276 | 76051;76052;76053 | chr2:178534170;178534169;178534168 | chr2:179398897;179398896;179398895 |
| 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/A | None | None | 0.999 | N | 0.581 | 0.505 | 0.32980341726 | gnomAD-4.0.0 | 6.84156E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs1165341799  |
None | 1.0 | N | 0.631 | 0.582 | 0.435808882951 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs1165341799 |
None | 1.0 | N | 0.631 | 0.582 | 0.435808882951 | gnomAD-4.0.0 | 2.47854E-06 | None | None | None | None | N | None | 1.33469E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54266E-06 | 0 | 0 |
| E/K | rs780580255 |
0.312 | 0.999 | N | 0.582 | 0.393 | 0.346768085243 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs780580255 |
0.312 | 0.999 | N | 0.582 | 0.393 | 0.346768085243 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs780580255 |
0.312 | 0.999 | N | 0.582 | 0.393 | 0.346768085243 | gnomAD-4.0.0 | 4.95711E-06 | None | None | None | None | N | None | 0 | 1.66672E-05 | None | 0 | 0 | None | 0 | 0 | 5.93285E-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 | 0.2285 | likely_benign | 0.2579 | benign | -0.491 | Destabilizing | 0.999 | D | 0.581 | neutral | N | 0.496556373 | None | None | N |
| E/C | 0.935 | likely_pathogenic | 0.9683 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/D | 0.2933 | likely_benign | 0.337 | benign | -0.509 | Destabilizing | 0.999 | D | 0.428 | neutral | N | 0.457141054 | None | None | N |
| E/F | 0.8941 | likely_pathogenic | 0.9353 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| E/G | 0.4002 | ambiguous | 0.4998 | ambiguous | -0.728 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.48948845 | None | None | N |
| E/H | 0.7614 | likely_pathogenic | 0.8267 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| E/I | 0.4657 | ambiguous | 0.5703 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| E/K | 0.2588 | likely_benign | 0.3724 | ambiguous | 0.204 | Stabilizing | 0.999 | D | 0.582 | neutral | N | 0.509160311 | None | None | N |
| E/L | 0.6342 | likely_pathogenic | 0.7335 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| E/M | 0.6416 | likely_pathogenic | 0.7304 | pathogenic | 0.313 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| E/N | 0.4859 | ambiguous | 0.5952 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| E/P | 0.7776 | likely_pathogenic | 0.8759 | pathogenic | -0.067 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| E/Q | 0.2714 | likely_benign | 0.3318 | benign | -0.108 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.465850786 | None | None | N |
| E/R | 0.4477 | ambiguous | 0.5647 | pathogenic | 0.367 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| E/S | 0.3721 | ambiguous | 0.4268 | ambiguous | -0.328 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| E/T | 0.3511 | ambiguous | 0.4177 | ambiguous | -0.133 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| E/V | 0.2861 | likely_benign | 0.3465 | ambiguous | -0.067 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.491361197 | None | None | N |
| E/W | 0.9727 | likely_pathogenic | 0.9838 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/Y | 0.8206 | likely_pathogenic | 0.8875 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.663 | 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.