Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21925 | 65998;65999;66000 | chr2:178583030;178583029;178583028 | chr2:179447757;179447756;179447755 |
| N2AB | 20284 | 61075;61076;61077 | chr2:178583030;178583029;178583028 | chr2:179447757;179447756;179447755 |
| N2A | 19357 | 58294;58295;58296 | chr2:178583030;178583029;178583028 | chr2:179447757;179447756;179447755 |
| N2B | 12860 | 38803;38804;38805 | chr2:178583030;178583029;178583028 | chr2:179447757;179447756;179447755 |
| Novex-1 | 12985 | 39178;39179;39180 | chr2:178583030;178583029;178583028 | chr2:179447757;179447756;179447755 |
| Novex-2 | 13052 | 39379;39380;39381 | chr2:178583030;178583029;178583028 | chr2:179447757;179447756;179447755 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs72646867  |
-0.112 | 0.982 | N | 0.435 | 0.248 | 0.0551355673512 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| S/R | rs72646867 |
-0.112 | 0.982 | N | 0.435 | 0.248 | 0.0551355673512 | gnomAD-4.0.0 | 6.86384E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01486E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0972 | likely_benign | 0.0962 | benign | -0.508 | Destabilizing | 0.218 | N | 0.454 | neutral | None | None | None | None | N |
| S/C | 0.143 | likely_benign | 0.1483 | benign | -0.252 | Destabilizing | 0.007 | N | 0.371 | neutral | N | 0.466696479 | None | None | N |
| S/D | 0.5326 | ambiguous | 0.5621 | ambiguous | 0.016 | Stabilizing | 0.967 | D | 0.406 | neutral | None | None | None | None | N |
| S/E | 0.6961 | likely_pathogenic | 0.7197 | pathogenic | -0.078 | Destabilizing | 0.893 | D | 0.409 | neutral | None | None | None | None | N |
| S/F | 0.3349 | likely_benign | 0.3339 | benign | -1.096 | Destabilizing | 0.704 | D | 0.563 | neutral | None | None | None | None | N |
| S/G | 0.1465 | likely_benign | 0.1525 | benign | -0.622 | Destabilizing | 0.505 | D | 0.411 | neutral | N | 0.449994578 | None | None | N |
| S/H | 0.4392 | ambiguous | 0.4602 | ambiguous | -1.148 | Destabilizing | 0.906 | D | 0.462 | neutral | None | None | None | None | N |
| S/I | 0.4934 | ambiguous | 0.5011 | ambiguous | -0.331 | Destabilizing | 0.782 | D | 0.55 | neutral | N | 0.504079779 | None | None | N |
| S/K | 0.8101 | likely_pathogenic | 0.8433 | pathogenic | -0.489 | Destabilizing | 0.733 | D | 0.416 | neutral | None | None | None | None | N |
| S/L | 0.1557 | likely_benign | 0.143 | benign | -0.331 | Destabilizing | 0.404 | N | 0.507 | neutral | None | None | None | None | N |
| S/M | 0.3081 | likely_benign | 0.302 | benign | 0.082 | Stabilizing | 0.991 | D | 0.457 | neutral | None | None | None | None | N |
| S/N | 0.2486 | likely_benign | 0.2564 | benign | -0.212 | Destabilizing | 0.957 | D | 0.445 | neutral | N | 0.398581535 | None | None | N |
| S/P | 0.7158 | likely_pathogenic | 0.7243 | pathogenic | -0.362 | Destabilizing | 0.967 | D | 0.434 | neutral | None | None | None | None | N |
| S/Q | 0.5868 | likely_pathogenic | 0.6229 | pathogenic | -0.52 | Destabilizing | 0.967 | D | 0.397 | neutral | None | None | None | None | N |
| S/R | 0.7189 | likely_pathogenic | 0.7644 | pathogenic | -0.237 | Destabilizing | 0.982 | D | 0.435 | neutral | N | 0.452322807 | None | None | N |
| S/T | 0.165 | likely_benign | 0.1582 | benign | -0.34 | Destabilizing | 0.505 | D | 0.459 | neutral | N | 0.490995838 | None | None | N |
| S/V | 0.3996 | ambiguous | 0.4098 | ambiguous | -0.362 | Destabilizing | 0.404 | N | 0.493 | neutral | None | None | None | None | N |
| S/W | 0.4916 | ambiguous | 0.5051 | ambiguous | -1.061 | Destabilizing | 0.991 | D | 0.663 | neutral | None | None | None | None | N |
| S/Y | 0.2639 | likely_benign | 0.2636 | benign | -0.799 | Destabilizing | 0.04 | N | 0.332 | 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.