Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8409 | 25450;25451;25452 | chr2:178717649;178717648;178717647 | chr2:179582376;179582375;179582374 |
| N2AB | 8092 | 24499;24500;24501 | chr2:178717649;178717648;178717647 | chr2:179582376;179582375;179582374 |
| N2A | 7165 | 21718;21719;21720 | chr2:178717649;178717648;178717647 | chr2:179582376;179582375;179582374 |
| 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/P | None | None | 0.863 | N | 0.423 | 0.34 | 0.401042353794 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | None | None | 0.002 | N | 0.094 | 0.123 | 0.184867976434 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| S/Y | rs764182857  |
-0.531 | 0.996 | D | 0.461 | 0.348 | 0.763584799786 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/Y | rs764182857 |
-0.531 | 0.996 | D | 0.461 | 0.348 | 0.763584799786 | gnomAD-4.0.0 | 4.7769E-06 | None | None | None | None | I | None | 5.65867E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.05473E-05 |
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 | 0.1006 | likely_benign | 0.1119 | benign | -0.592 | Destabilizing | None | N | 0.107 | neutral | N | 0.498176179 | None | None | I |
| S/C | 0.2487 | likely_benign | 0.2497 | benign | -0.346 | Destabilizing | 0.985 | D | 0.39 | neutral | N | 0.510219501 | None | None | I |
| S/D | 0.4947 | ambiguous | 0.6293 | pathogenic | 0.19 | Stabilizing | 0.673 | D | 0.255 | neutral | None | None | None | None | I |
| S/E | 0.6046 | likely_pathogenic | 0.7242 | pathogenic | 0.145 | Stabilizing | 0.072 | N | 0.144 | neutral | None | None | None | None | I |
| S/F | 0.2333 | likely_benign | 0.3045 | benign | -0.992 | Destabilizing | 0.976 | D | 0.469 | neutral | N | 0.488570073 | None | None | I |
| S/G | 0.1607 | likely_benign | 0.1844 | benign | -0.782 | Destabilizing | 0.01 | N | 0.085 | neutral | None | None | None | None | I |
| S/H | 0.373 | ambiguous | 0.4757 | ambiguous | -1.289 | Destabilizing | 0.997 | D | 0.403 | neutral | None | None | None | None | I |
| S/I | 0.2546 | likely_benign | 0.3112 | benign | -0.21 | Destabilizing | 0.171 | N | 0.335 | neutral | None | None | None | None | I |
| S/K | 0.711 | likely_pathogenic | 0.8259 | pathogenic | -0.54 | Destabilizing | 0.939 | D | 0.254 | neutral | None | None | None | None | I |
| S/L | 0.1555 | likely_benign | 0.1736 | benign | -0.21 | Destabilizing | 0.046 | N | 0.268 | neutral | None | None | None | None | I |
| S/M | 0.2994 | likely_benign | 0.3208 | benign | 0.032 | Stabilizing | 0.982 | D | 0.415 | neutral | None | None | None | None | I |
| S/N | 0.2076 | likely_benign | 0.2582 | benign | -0.374 | Destabilizing | 0.325 | N | 0.275 | neutral | None | None | None | None | I |
| S/P | 0.9366 | likely_pathogenic | 0.9534 | pathogenic | -0.305 | Destabilizing | 0.863 | D | 0.423 | neutral | N | 0.498191632 | None | None | I |
| S/Q | 0.5598 | ambiguous | 0.6564 | pathogenic | -0.54 | Destabilizing | 0.982 | D | 0.346 | neutral | None | None | None | None | I |
| S/R | 0.5715 | likely_pathogenic | 0.7171 | pathogenic | -0.421 | Destabilizing | 0.939 | D | 0.422 | neutral | None | None | None | None | I |
| S/T | 0.0926 | likely_benign | 0.0927 | benign | -0.445 | Destabilizing | 0.002 | N | 0.094 | neutral | N | 0.466525121 | None | None | I |
| S/V | 0.2318 | likely_benign | 0.2688 | benign | -0.305 | Destabilizing | 0.543 | D | 0.363 | neutral | None | None | None | None | I |
| S/W | 0.4527 | ambiguous | 0.5576 | ambiguous | -0.975 | Destabilizing | 0.999 | D | 0.493 | neutral | None | None | None | None | I |
| S/Y | 0.214 | likely_benign | 0.2804 | benign | -0.704 | Destabilizing | 0.996 | D | 0.461 | neutral | D | 0.533848978 | 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.