Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8191 | 24796;24797;24798 | chr2:178718535;178718534;178718533 | chr2:179583262;179583261;179583260 |
| N2AB | 7874 | 23845;23846;23847 | chr2:178718535;178718534;178718533 | chr2:179583262;179583261;179583260 |
| N2A | 6947 | 21064;21065;21066 | chr2:178718535;178718534;178718533 | chr2:179583262;179583261;179583260 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | 0.068 | D | 0.375 | 0.42 | 0.421060224861 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/K | rs201326258  |
0.524 | 0.996 | D | 0.547 | 0.366 | 0.38225645794 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.58E-05 | None | 6.54E-05 | None | 0 | 3.57E-05 | 1.66334E-04 |
| E/K | rs201326258 |
0.524 | 0.996 | D | 0.547 | 0.366 | 0.38225645794 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 2.41E-05 | 1.30959E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 9.57854E-04 |
| E/K | rs201326258 |
0.524 | 0.996 | D | 0.547 | 0.366 | 0.38225645794 | gnomAD-4.0.0 | 1.67332E-05 | None | None | None | None | I | None | 2.67051E-05 | 3.334E-05 | None | 0 | 4.45792E-05 | None | 0 | 1.64474E-04 | 1.35624E-05 | 2.19635E-05 | 3.20287E-05 |
| E/Q | None | None | 0.999 | N | 0.587 | 0.398 | 0.375861065471 | gnomAD-4.0.0 | 1.36851E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79901E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6273 | likely_pathogenic | 0.5848 | pathogenic | -0.732 | Destabilizing | 0.906 | D | 0.559 | neutral | N | 0.508800695 | None | None | I |
| E/C | 0.989 | likely_pathogenic | 0.9859 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| E/D | 0.6985 | likely_pathogenic | 0.6778 | pathogenic | -0.789 | Destabilizing | 0.979 | D | 0.543 | neutral | N | 0.488063094 | None | None | I |
| E/F | 0.9812 | likely_pathogenic | 0.9779 | pathogenic | -0.232 | Destabilizing | 0.995 | D | 0.695 | prob.neutral | None | None | None | None | I |
| E/G | 0.7266 | likely_pathogenic | 0.6863 | pathogenic | -1.052 | Destabilizing | 0.068 | N | 0.375 | neutral | D | 0.526450878 | None | None | I |
| E/H | 0.9146 | likely_pathogenic | 0.9016 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | I |
| E/I | 0.8994 | likely_pathogenic | 0.8852 | pathogenic | 0.125 | Stabilizing | 0.489 | N | 0.471 | neutral | None | None | None | None | I |
| E/K | 0.7278 | likely_pathogenic | 0.683 | pathogenic | -0.145 | Destabilizing | 0.996 | D | 0.547 | neutral | D | 0.534963699 | None | None | I |
| E/L | 0.9094 | likely_pathogenic | 0.8835 | pathogenic | 0.125 | Stabilizing | 0.939 | D | 0.604 | neutral | None | None | None | None | I |
| E/M | 0.8986 | likely_pathogenic | 0.8791 | pathogenic | 0.42 | Stabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | I |
| E/N | 0.868 | likely_pathogenic | 0.8443 | pathogenic | -0.658 | Destabilizing | 0.995 | D | 0.567 | neutral | None | None | None | None | I |
| E/P | 0.991 | likely_pathogenic | 0.9879 | pathogenic | -0.139 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | I |
| E/Q | 0.4428 | ambiguous | 0.4058 | ambiguous | -0.557 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.496772827 | None | None | I |
| E/R | 0.8351 | likely_pathogenic | 0.8094 | pathogenic | 0.116 | Stabilizing | 0.995 | D | 0.589 | neutral | None | None | None | None | I |
| E/S | 0.7052 | likely_pathogenic | 0.6844 | pathogenic | -0.898 | Destabilizing | 0.939 | D | 0.551 | neutral | None | None | None | None | I |
| E/T | 0.7383 | likely_pathogenic | 0.7292 | pathogenic | -0.629 | Destabilizing | 0.293 | N | 0.363 | neutral | None | None | None | None | I |
| E/V | 0.725 | likely_pathogenic | 0.7002 | pathogenic | -0.139 | Destabilizing | 0.921 | D | 0.585 | neutral | N | 0.518310576 | None | None | I |
| E/W | 0.9944 | likely_pathogenic | 0.9933 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| E/Y | 0.9684 | likely_pathogenic | 0.9617 | pathogenic | 0.043 | Stabilizing | 0.999 | D | 0.672 | 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.