Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21693 | 65302;65303;65304 | chr2:178584474;178584473;178584472 | chr2:179449201;179449200;179449199 |
| N2AB | 20052 | 60379;60380;60381 | chr2:178584474;178584473;178584472 | chr2:179449201;179449200;179449199 |
| N2A | 19125 | 57598;57599;57600 | chr2:178584474;178584473;178584472 | chr2:179449201;179449200;179449199 |
| N2B | 12628 | 38107;38108;38109 | chr2:178584474;178584473;178584472 | chr2:179449201;179449200;179449199 |
| Novex-1 | 12753 | 38482;38483;38484 | chr2:178584474;178584473;178584472 | chr2:179449201;179449200;179449199 |
| Novex-2 | 12820 | 38683;38684;38685 | chr2:178584474;178584473;178584472 | chr2:179449201;179449200;179449199 |
| 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 | None | None | 1.0 | N | 0.833 | 0.513 | 0.512825096792 | gnomAD-4.0.0 | 1.59242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85999E-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 | 0.7141 | likely_pathogenic | 0.6937 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.589 | neutral | N | 0.506343662 | None | None | N |
| G/C | 0.9283 | likely_pathogenic | 0.9159 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.519474394 | None | None | N |
| G/D | 0.9874 | likely_pathogenic | 0.9823 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.502976301 | None | None | N |
| G/E | 0.993 | likely_pathogenic | 0.9907 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/F | 0.9968 | likely_pathogenic | 0.9964 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/H | 0.9926 | likely_pathogenic | 0.991 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/I | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | 0.869 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/K | 0.9973 | likely_pathogenic | 0.9968 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/L | 0.9948 | likely_pathogenic | 0.9946 | pathogenic | 0.869 | Stabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/M | 0.9971 | likely_pathogenic | 0.9966 | pathogenic | 0.63 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/N | 0.9772 | likely_pathogenic | 0.9689 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 0.59 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/Q | 0.9902 | likely_pathogenic | 0.9882 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/R | 0.9879 | likely_pathogenic | 0.9858 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.493973399 | None | None | N |
| G/S | 0.6862 | likely_pathogenic | 0.6607 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.484489971 | None | None | N |
| G/T | 0.968 | likely_pathogenic | 0.9686 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/V | 0.9911 | likely_pathogenic | 0.9905 | pathogenic | 0.59 | Stabilizing | 1.0 | D | 0.885 | deleterious | D | 0.529727836 | None | None | N |
| G/W | 0.9915 | likely_pathogenic | 0.9896 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/Y | 0.989 | likely_pathogenic | 0.9877 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.845 | deleterious | 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.