Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29082 | 87469;87470;87471 | chr2:178558110;178558109;178558108 | chr2:179422837;179422836;179422835 |
| N2AB | 27441 | 82546;82547;82548 | chr2:178558110;178558109;178558108 | chr2:179422837;179422836;179422835 |
| N2A | 26514 | 79765;79766;79767 | chr2:178558110;178558109;178558108 | chr2:179422837;179422836;179422835 |
| N2B | 20017 | 60274;60275;60276 | chr2:178558110;178558109;178558108 | chr2:179422837;179422836;179422835 |
| Novex-1 | 20142 | 60649;60650;60651 | chr2:178558110;178558109;178558108 | chr2:179422837;179422836;179422835 |
| Novex-2 | 20209 | 60850;60851;60852 | chr2:178558110;178558109;178558108 | chr2:179422837;179422836;179422835 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1176561473  |
-0.603 | 0.006 | N | 0.325 | 0.234 | 0.201204373187 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/D | rs1176561473 |
-0.603 | 0.006 | N | 0.325 | 0.234 | 0.201204373187 | 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 |
| G/D | rs1176561473 |
-0.603 | 0.006 | N | 0.325 | 0.234 | 0.201204373187 | gnomAD-4.0.0 | 2.47875E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22896E-05 | None | 0 | 0 | 2.54271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1515 | likely_benign | 0.1647 | benign | -0.289 | Destabilizing | 0.645 | D | 0.401 | neutral | N | 0.482583278 | None | None | N |
| G/C | 0.2103 | likely_benign | 0.2255 | benign | -0.963 | Destabilizing | 0.993 | D | 0.651 | neutral | N | 0.483597236 | None | None | N |
| G/D | 0.147 | likely_benign | 0.1559 | benign | -0.655 | Destabilizing | 0.006 | N | 0.325 | neutral | N | 0.448250712 | None | None | N |
| G/E | 0.1925 | likely_benign | 0.2045 | benign | -0.821 | Destabilizing | 0.547 | D | 0.473 | neutral | None | None | None | None | N |
| G/F | 0.5633 | ambiguous | 0.6033 | pathogenic | -1.047 | Destabilizing | 0.995 | D | 0.626 | neutral | None | None | None | None | N |
| G/H | 0.2914 | likely_benign | 0.2971 | benign | -0.44 | Destabilizing | 0.985 | D | 0.533 | neutral | None | None | None | None | N |
| G/I | 0.381 | ambiguous | 0.4346 | ambiguous | -0.513 | Destabilizing | 0.945 | D | 0.627 | neutral | None | None | None | None | N |
| G/K | 0.3167 | likely_benign | 0.3492 | ambiguous | -0.799 | Destabilizing | 0.894 | D | 0.486 | neutral | None | None | None | None | N |
| G/L | 0.4598 | ambiguous | 0.4882 | ambiguous | -0.513 | Destabilizing | 0.945 | D | 0.626 | neutral | None | None | None | None | N |
| G/M | 0.4268 | ambiguous | 0.4621 | ambiguous | -0.602 | Destabilizing | 0.995 | D | 0.634 | neutral | None | None | None | None | N |
| G/N | 0.1648 | likely_benign | 0.1788 | benign | -0.487 | Destabilizing | 0.031 | N | 0.269 | neutral | None | None | None | None | N |
| G/P | 0.9137 | likely_pathogenic | 0.932 | pathogenic | -0.41 | Destabilizing | 0.945 | D | 0.518 | neutral | None | None | None | None | N |
| G/Q | 0.2619 | likely_benign | 0.2709 | benign | -0.77 | Destabilizing | 0.894 | D | 0.521 | neutral | None | None | None | None | N |
| G/R | 0.2351 | likely_benign | 0.2491 | benign | -0.341 | Destabilizing | 0.864 | D | 0.527 | neutral | N | 0.470973483 | None | None | N |
| G/S | 0.0954 | likely_benign | 0.0998 | benign | -0.608 | Destabilizing | 0.477 | N | 0.403 | neutral | N | 0.462958086 | None | None | N |
| G/T | 0.1832 | likely_benign | 0.2048 | benign | -0.708 | Destabilizing | 0.894 | D | 0.489 | neutral | None | None | None | None | N |
| G/V | 0.2931 | likely_benign | 0.3297 | benign | -0.41 | Destabilizing | 0.928 | D | 0.625 | neutral | N | 0.483597236 | None | None | N |
| G/W | 0.4469 | ambiguous | 0.4637 | ambiguous | -1.167 | Destabilizing | 0.995 | D | 0.573 | neutral | None | None | None | None | N |
| G/Y | 0.3938 | ambiguous | 0.4342 | ambiguous | -0.848 | Destabilizing | 0.995 | D | 0.624 | 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.