Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6660 | 20203;20204;20205 | chr2:178727600;178727599;178727598 | chr2:179592327;179592326;179592325 |
| N2AB | 6343 | 19252;19253;19254 | chr2:178727600;178727599;178727598 | chr2:179592327;179592326;179592325 |
| N2A | 5416 | 16471;16472;16473 | chr2:178727600;178727599;178727598 | chr2:179592327;179592326;179592325 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.002 | N | 0.321 | 0.038 | 0.270889551736 | gnomAD-4.0.0 | 1.40711E-06 | None | None | None | None | N | None | 0 | 2.60078E-05 | None | 0 | 0 | None | 0 | 0 | 9.14875E-07 | 0 | 0 |
| M/L | rs780339252  |
-0.123 | 0.001 | N | 0.227 | 0.076 | 0.371157983038 | gnomAD-2.1.1 | 4.46E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.94E-05 | 0 | 0 |
| M/L | rs780339252 |
-0.123 | 0.001 | N | 0.227 | 0.076 | 0.371157983038 | gnomAD-4.0.0 | 5.06049E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.91747E-05 | 0 | 6.00348E-06 | 0 | 0 |
| M/V | rs780339252 |
-0.502 | None | N | 0.088 | 0.138 | 0.202086224978 | gnomAD-2.1.1 | 4.46E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.06E-05 | None | 0 | 0 | 0 |
| M/V | rs780339252 |
-0.502 | None | N | 0.088 | 0.138 | 0.202086224978 | gnomAD-4.0.0 | 1.68683E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.58856E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.1631 | likely_benign | 0.1624 | benign | -1.694 | Destabilizing | 0.004 | N | 0.24 | neutral | None | None | None | None | N |
| M/C | 0.6703 | likely_pathogenic | 0.6349 | pathogenic | -1.418 | Destabilizing | 0.245 | N | 0.478 | neutral | None | None | None | None | N |
| M/D | 0.41 | ambiguous | 0.4216 | ambiguous | -0.49 | Destabilizing | None | N | 0.389 | neutral | None | None | None | None | N |
| M/E | 0.197 | likely_benign | 0.2121 | benign | -0.404 | Destabilizing | 0.009 | N | 0.359 | neutral | None | None | None | None | N |
| M/F | 0.2244 | likely_benign | 0.2111 | benign | -0.449 | Destabilizing | 0.044 | N | 0.475 | neutral | None | None | None | None | N |
| M/G | 0.3693 | ambiguous | 0.3568 | ambiguous | -2.07 | Highly Destabilizing | 0.018 | N | 0.376 | neutral | None | None | None | None | N |
| M/H | 0.2642 | likely_benign | 0.2906 | benign | -1.188 | Destabilizing | 0.245 | N | 0.514 | neutral | None | None | None | None | N |
| M/I | 0.2147 | likely_benign | 0.1728 | benign | -0.695 | Destabilizing | 0.002 | N | 0.321 | neutral | N | 0.464447608 | None | None | N |
| M/K | 0.1259 | likely_benign | 0.1281 | benign | -0.613 | Destabilizing | None | N | 0.161 | neutral | N | 0.450054159 | None | None | N |
| M/L | 0.1113 | likely_benign | 0.1014 | benign | -0.695 | Destabilizing | 0.001 | N | 0.227 | neutral | N | 0.417771169 | None | None | N |
| M/N | 0.2149 | likely_benign | 0.2147 | benign | -0.592 | Destabilizing | None | N | 0.283 | neutral | None | None | None | None | N |
| M/P | 0.5803 | likely_pathogenic | 0.5812 | pathogenic | -1.001 | Destabilizing | 0.085 | N | 0.549 | neutral | None | None | None | None | N |
| M/Q | 0.137 | likely_benign | 0.1536 | benign | -0.556 | Destabilizing | 0.044 | N | 0.421 | neutral | None | None | None | None | N |
| M/R | 0.1174 | likely_benign | 0.1304 | benign | -0.294 | Destabilizing | 0.017 | N | 0.436 | neutral | N | 0.42254227 | None | None | N |
| M/S | 0.1475 | likely_benign | 0.1543 | benign | -1.265 | Destabilizing | 0.004 | N | 0.259 | neutral | None | None | None | None | N |
| M/T | 0.0723 | likely_benign | 0.0747 | benign | -1.057 | Destabilizing | None | N | 0.163 | neutral | N | 0.37967414 | None | None | N |
| M/V | 0.0654 | likely_benign | 0.0593 | benign | -1.001 | Destabilizing | None | N | 0.088 | neutral | N | 0.411210556 | None | None | N |
| M/W | 0.44 | ambiguous | 0.4504 | ambiguous | -0.468 | Destabilizing | 0.788 | D | 0.461 | neutral | None | None | None | None | N |
| M/Y | 0.3531 | ambiguous | 0.3629 | ambiguous | -0.476 | Destabilizing | 0.085 | N | 0.556 | 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.