Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34164 | 102715;102716;102717 | chr2:178534125;178534124;178534123 | chr2:179398852;179398851;179398850 |
| N2AB | 32523 | 97792;97793;97794 | chr2:178534125;178534124;178534123 | chr2:179398852;179398851;179398850 |
| N2A | 31596 | 95011;95012;95013 | chr2:178534125;178534124;178534123 | chr2:179398852;179398851;179398850 |
| N2B | 25099 | 75520;75521;75522 | chr2:178534125;178534124;178534123 | chr2:179398852;179398851;179398850 |
| Novex-1 | 25224 | 75895;75896;75897 | chr2:178534125;178534124;178534123 | chr2:179398852;179398851;179398850 |
| Novex-2 | 25291 | 76096;76097;76098 | chr2:178534125;178534124;178534123 | chr2:179398852;179398851;179398850 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/P | None | None | 0.106 | N | 0.487 | 0.191 | 0.188950314367 | gnomAD-4.0.0 | 1.36832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79883E-06 | 0 | 0 |
| Q/R | rs1329503424  |
0.279 | 0.012 | N | 0.343 | 0.134 | 0.191931220699 | 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 |
| Q/R | rs1329503424 |
0.279 | 0.012 | N | 0.343 | 0.134 | 0.191931220699 | gnomAD-4.0.0 | 6.84159E-07 | None | None | None | None | N | None | 0 | 2.23604E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1558 | likely_benign | 0.1538 | benign | -0.166 | Destabilizing | 0.007 | N | 0.267 | neutral | None | None | None | None | N |
| Q/C | 0.7743 | likely_pathogenic | 0.7956 | pathogenic | -0.174 | Destabilizing | 0.864 | D | 0.367 | neutral | None | None | None | None | N |
| Q/D | 0.2427 | likely_benign | 0.239 | benign | -0.299 | Destabilizing | 0.016 | N | 0.348 | neutral | None | None | None | None | N |
| Q/E | 0.0736 | likely_benign | 0.0755 | benign | -0.363 | Destabilizing | None | N | 0.075 | neutral | N | 0.455846767 | None | None | N |
| Q/F | 0.7476 | likely_pathogenic | 0.75 | pathogenic | -0.636 | Destabilizing | 0.356 | N | 0.407 | neutral | None | None | None | None | N |
| Q/G | 0.2497 | likely_benign | 0.2463 | benign | -0.227 | Destabilizing | 0.016 | N | 0.315 | neutral | None | None | None | None | N |
| Q/H | 0.2216 | likely_benign | 0.2319 | benign | -0.116 | Destabilizing | None | N | 0.163 | neutral | N | 0.505795585 | None | None | N |
| Q/I | 0.4258 | ambiguous | 0.4309 | ambiguous | -0.099 | Destabilizing | 0.356 | N | 0.473 | neutral | None | None | None | None | N |
| Q/K | 0.0868 | likely_benign | 0.0829 | benign | -0.098 | Destabilizing | None | N | 0.069 | neutral | N | 0.466967838 | None | None | N |
| Q/L | 0.1893 | likely_benign | 0.1962 | benign | -0.099 | Destabilizing | 0.055 | N | 0.34 | neutral | N | 0.462255452 | None | None | N |
| Q/M | 0.4184 | ambiguous | 0.4113 | ambiguous | -0.006 | Destabilizing | 0.628 | D | 0.421 | neutral | None | None | None | None | N |
| Q/N | 0.2223 | likely_benign | 0.2303 | benign | -0.319 | Destabilizing | 0.031 | N | 0.331 | neutral | None | None | None | None | N |
| Q/P | 0.1154 | likely_benign | 0.1197 | benign | -0.102 | Destabilizing | 0.106 | N | 0.487 | neutral | N | 0.339992671 | None | None | N |
| Q/R | 0.113 | likely_benign | 0.1075 | benign | 0.049 | Stabilizing | 0.012 | N | 0.343 | neutral | N | 0.461908735 | None | None | N |
| Q/S | 0.1581 | likely_benign | 0.1562 | benign | -0.296 | Destabilizing | None | N | 0.046 | neutral | None | None | None | None | N |
| Q/T | 0.1798 | likely_benign | 0.1814 | benign | -0.255 | Destabilizing | 0.016 | N | 0.341 | neutral | None | None | None | None | N |
| Q/V | 0.2853 | likely_benign | 0.2891 | benign | -0.102 | Destabilizing | 0.072 | N | 0.426 | neutral | None | None | None | None | N |
| Q/W | 0.7217 | likely_pathogenic | 0.7079 | pathogenic | -0.729 | Destabilizing | 0.864 | D | 0.36 | neutral | None | None | None | None | N |
| Q/Y | 0.5412 | ambiguous | 0.5462 | ambiguous | -0.443 | Destabilizing | 0.214 | N | 0.479 | 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.