Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16135 | 48628;48629;48630 | chr2:178615698;178615697;178615696 | chr2:179480425;179480424;179480423 |
| N2AB | 14494 | 43705;43706;43707 | chr2:178615698;178615697;178615696 | chr2:179480425;179480424;179480423 |
| N2A | 13567 | 40924;40925;40926 | chr2:178615698;178615697;178615696 | chr2:179480425;179480424;179480423 |
| N2B | 7070 | 21433;21434;21435 | chr2:178615698;178615697;178615696 | chr2:179480425;179480424;179480423 |
| Novex-1 | 7195 | 21808;21809;21810 | chr2:178615698;178615697;178615696 | chr2:179480425;179480424;179480423 |
| Novex-2 | 7262 | 22009;22010;22011 | chr2:178615698;178615697;178615696 | chr2:179480425;179480424;179480423 |
| 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/R | rs1266340994  |
0.421 | 0.999 | N | 0.735 | 0.481 | 0.724303115599 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs1266340994 |
0.421 | 0.999 | N | 0.735 | 0.481 | 0.724303115599 | gnomAD-4.0.0 | 1.59396E-06 | None | None | None | None | I | None | 5.68376E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | None | None | 0.999 | N | 0.717 | 0.378 | 0.515259903717 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7924 | likely_pathogenic | 0.7889 | pathogenic | -0.754 | Destabilizing | 0.964 | D | 0.461 | neutral | None | None | None | None | I |
| C/D | 0.9872 | likely_pathogenic | 0.9857 | pathogenic | 0.399 | Stabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | I |
| C/E | 0.9897 | likely_pathogenic | 0.9888 | pathogenic | 0.371 | Stabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | I |
| C/F | 0.561 | ambiguous | 0.5306 | ambiguous | -0.673 | Destabilizing | 0.997 | D | 0.714 | prob.delet. | N | 0.475720943 | None | None | I |
| C/G | 0.7406 | likely_pathogenic | 0.7545 | pathogenic | -0.906 | Destabilizing | 0.999 | D | 0.656 | neutral | N | 0.47458027 | None | None | I |
| C/H | 0.909 | likely_pathogenic | 0.9191 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| C/I | 0.8272 | likely_pathogenic | 0.7191 | pathogenic | -0.434 | Destabilizing | 0.971 | D | 0.508 | neutral | None | None | None | None | I |
| C/K | 0.994 | likely_pathogenic | 0.9937 | pathogenic | 0.017 | Stabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | I |
| C/L | 0.8441 | likely_pathogenic | 0.8141 | pathogenic | -0.434 | Destabilizing | 0.931 | D | 0.501 | neutral | None | None | None | None | I |
| C/M | 0.9055 | likely_pathogenic | 0.8888 | pathogenic | -0.047 | Destabilizing | 0.998 | D | 0.561 | neutral | None | None | None | None | I |
| C/N | 0.9234 | likely_pathogenic | 0.9304 | pathogenic | 0.343 | Stabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | I |
| C/P | 0.9957 | likely_pathogenic | 0.9945 | pathogenic | -0.516 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | I |
| C/Q | 0.9713 | likely_pathogenic | 0.9752 | pathogenic | 0.167 | Stabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | I |
| C/R | 0.9558 | likely_pathogenic | 0.9552 | pathogenic | 0.327 | Stabilizing | 0.999 | D | 0.735 | prob.delet. | N | 0.466738083 | None | None | I |
| C/S | 0.8137 | likely_pathogenic | 0.8152 | pathogenic | -0.139 | Destabilizing | 0.99 | D | 0.527 | neutral | N | 0.474108959 | None | None | I |
| C/T | 0.9184 | likely_pathogenic | 0.8951 | pathogenic | -0.038 | Destabilizing | 0.985 | D | 0.54 | neutral | None | None | None | None | I |
| C/V | 0.7339 | likely_pathogenic | 0.6133 | pathogenic | -0.516 | Destabilizing | 0.469 | N | 0.372 | neutral | None | None | None | None | I |
| C/W | 0.8554 | likely_pathogenic | 0.8468 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.467825978 | None | None | I |
| C/Y | 0.6362 | likely_pathogenic | 0.6408 | pathogenic | -0.494 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | N | 0.405234141 | None | None | I |
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.