Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5437 | 16534;16535;16536 | chr2:178732867;178732866;178732865 | chr2:179597594;179597593;179597592 |
| N2AB | 5120 | 15583;15584;15585 | chr2:178732867;178732866;178732865 | chr2:179597594;179597593;179597592 |
| N2A | 4193 | 12802;12803;12804 | chr2:178732867;178732866;178732865 | chr2:179597594;179597593;179597592 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs794727755  |
-0.471 | 0.801 | N | 0.341 | 0.323 | 0.235038932564 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| S/N | rs794727755 |
-0.471 | 0.801 | N | 0.341 | 0.323 | 0.235038932564 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| S/N | rs794727755 |
-0.471 | 0.801 | N | 0.341 | 0.323 | 0.235038932564 | gnomAD-4.0.0 | 1.92194E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62857E-05 | 0 | 0 |
| S/R | None | None | 0.934 | N | 0.475 | 0.276 | 0.475034548194 | gnomAD-4.0.0 | 1.59288E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86131E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1021 | likely_benign | 0.1086 | benign | -0.429 | Destabilizing | 0.525 | D | 0.303 | neutral | None | None | None | None | I |
| S/C | 0.144 | likely_benign | 0.1489 | benign | -0.304 | Destabilizing | 0.997 | D | 0.483 | neutral | D | 0.529729334 | None | None | I |
| S/D | 0.4085 | ambiguous | 0.4678 | ambiguous | -0.299 | Destabilizing | 0.915 | D | 0.332 | neutral | None | None | None | None | I |
| S/E | 0.452 | ambiguous | 0.5112 | ambiguous | -0.382 | Destabilizing | 0.842 | D | 0.295 | neutral | None | None | None | None | I |
| S/F | 0.1892 | likely_benign | 0.2297 | benign | -0.88 | Destabilizing | 0.007 | N | 0.284 | neutral | None | None | None | None | I |
| S/G | 0.1185 | likely_benign | 0.1198 | benign | -0.579 | Destabilizing | 0.771 | D | 0.265 | neutral | N | 0.517194486 | None | None | I |
| S/H | 0.3336 | likely_benign | 0.364 | ambiguous | -1.11 | Destabilizing | 0.037 | N | 0.281 | neutral | None | None | None | None | I |
| S/I | 0.1671 | likely_benign | 0.1931 | benign | -0.158 | Destabilizing | 0.669 | D | 0.539 | neutral | N | 0.505281976 | None | None | I |
| S/K | 0.6219 | likely_pathogenic | 0.6652 | pathogenic | -0.729 | Destabilizing | 0.842 | D | 0.279 | neutral | None | None | None | None | I |
| S/L | 0.1344 | likely_benign | 0.1488 | benign | -0.158 | Destabilizing | 0.525 | D | 0.565 | neutral | None | None | None | None | I |
| S/M | 0.2162 | likely_benign | 0.2338 | benign | 0.189 | Stabilizing | 0.974 | D | 0.491 | neutral | None | None | None | None | I |
| S/N | 0.1372 | likely_benign | 0.1486 | benign | -0.45 | Destabilizing | 0.801 | D | 0.341 | neutral | N | 0.504268018 | None | None | I |
| S/P | 0.735 | likely_pathogenic | 0.7648 | pathogenic | -0.218 | Destabilizing | 0.991 | D | 0.481 | neutral | None | None | None | None | I |
| S/Q | 0.4221 | ambiguous | 0.4485 | ambiguous | -0.743 | Destabilizing | 0.974 | D | 0.413 | neutral | None | None | None | None | I |
| S/R | 0.4974 | ambiguous | 0.5418 | ambiguous | -0.449 | Destabilizing | 0.934 | D | 0.475 | neutral | N | 0.488948467 | None | None | I |
| S/T | 0.0887 | likely_benign | 0.0956 | benign | -0.516 | Destabilizing | 0.625 | D | 0.277 | neutral | N | 0.502371278 | None | None | I |
| S/V | 0.1671 | likely_benign | 0.1911 | benign | -0.218 | Destabilizing | 0.016 | N | 0.338 | neutral | None | None | None | None | I |
| S/W | 0.3273 | likely_benign | 0.3718 | ambiguous | -0.87 | Destabilizing | 0.998 | D | 0.562 | neutral | None | None | None | None | I |
| S/Y | 0.1963 | likely_benign | 0.2389 | benign | -0.62 | Destabilizing | 0.728 | D | 0.528 | neutral | None | None | 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.