Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9155 | 27688;27689;27690 | chr2:178712459;178712458;178712457 | chr2:179577186;179577185;179577184 |
| N2AB | 8838 | 26737;26738;26739 | chr2:178712459;178712458;178712457 | chr2:179577186;179577185;179577184 |
| N2A | 7911 | 23956;23957;23958 | chr2:178712459;178712458;178712457 | chr2:179577186;179577185;179577184 |
| 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/C | rs774307822  |
-0.364 | 1.0 | N | 0.669 | 0.427 | 0.484109215787 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/C | rs774307822 |
-0.364 | 1.0 | N | 0.669 | 0.427 | 0.484109215787 | gnomAD-4.0.0 | 4.10512E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.9562E-05 | 0 |
| S/F | rs774307822 |
-0.84 | 1.0 | D | 0.697 | 0.464 | 0.665400188923 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| S/P | None | None | 1.0 | N | 0.629 | 0.414 | 0.354396617058 | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85798E-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 | 0.1535 | likely_benign | 0.1384 | benign | -0.215 | Destabilizing | 0.997 | D | 0.437 | neutral | N | 0.47900429 | None | None | N |
| S/C | 0.2009 | likely_benign | 0.1929 | benign | -0.198 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.512872624 | None | None | N |
| S/D | 0.481 | ambiguous | 0.5087 | ambiguous | 0.055 | Stabilizing | 0.999 | D | 0.539 | neutral | None | None | None | None | N |
| S/E | 0.7652 | likely_pathogenic | 0.7743 | pathogenic | -0.051 | Destabilizing | 0.999 | D | 0.533 | neutral | None | None | None | None | N |
| S/F | 0.3187 | likely_benign | 0.3133 | benign | -0.885 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.52397544 | None | None | N |
| S/G | 0.11 | likely_benign | 0.1008 | benign | -0.297 | Destabilizing | 0.999 | D | 0.44 | neutral | None | None | None | None | N |
| S/H | 0.543 | ambiguous | 0.547 | ambiguous | -0.8 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| S/I | 0.386 | ambiguous | 0.3911 | ambiguous | -0.133 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| S/K | 0.8866 | likely_pathogenic | 0.8889 | pathogenic | -0.431 | Destabilizing | 0.999 | D | 0.533 | neutral | None | None | None | None | N |
| S/L | 0.1554 | likely_benign | 0.1441 | benign | -0.133 | Destabilizing | 1.0 | D | 0.577 | neutral | None | None | None | None | N |
| S/M | 0.3811 | ambiguous | 0.3526 | ambiguous | 0.069 | Stabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| S/N | 0.2342 | likely_benign | 0.2222 | benign | -0.112 | Destabilizing | 0.999 | D | 0.53 | neutral | None | None | None | None | N |
| S/P | 0.7858 | likely_pathogenic | 0.782 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.488981471 | None | None | N |
| S/Q | 0.7692 | likely_pathogenic | 0.7593 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| S/R | 0.8322 | likely_pathogenic | 0.8375 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| S/T | 0.1129 | likely_benign | 0.1095 | benign | -0.21 | Destabilizing | 0.999 | D | 0.419 | neutral | N | 0.508005518 | None | None | N |
| S/V | 0.3664 | ambiguous | 0.3533 | ambiguous | -0.133 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| S/W | 0.5797 | likely_pathogenic | 0.5668 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| S/Y | 0.3167 | likely_benign | 0.3196 | benign | -0.639 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | N | 0.497477394 | 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.