Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25866 | 77821;77822;77823 | chr2:178568536;178568535;178568534 | chr2:179433263;179433262;179433261 |
| N2AB | 24225 | 72898;72899;72900 | chr2:178568536;178568535;178568534 | chr2:179433263;179433262;179433261 |
| N2A | 23298 | 70117;70118;70119 | chr2:178568536;178568535;178568534 | chr2:179433263;179433262;179433261 |
| N2B | 16801 | 50626;50627;50628 | chr2:178568536;178568535;178568534 | chr2:179433263;179433262;179433261 |
| Novex-1 | 16926 | 51001;51002;51003 | chr2:178568536;178568535;178568534 | chr2:179433263;179433262;179433261 |
| Novex-2 | 16993 | 51202;51203;51204 | chr2:178568536;178568535;178568534 | chr2:179433263;179433262;179433261 |
| 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/A | rs748887998  |
-0.35 | 1.0 | D | 0.739 | 0.659 | 0.573065453189 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 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 | 0.4519 | ambiguous | 0.4303 | ambiguous | -0.759 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.585149141 | None | None | I |
| G/C | 0.6165 | likely_pathogenic | 0.5887 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/D | 0.8601 | likely_pathogenic | 0.8482 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/E | 0.9213 | likely_pathogenic | 0.9179 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.657623796 | None | None | I |
| G/F | 0.9449 | likely_pathogenic | 0.9449 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/H | 0.9371 | likely_pathogenic | 0.9267 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| G/I | 0.935 | likely_pathogenic | 0.9376 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/K | 0.9491 | likely_pathogenic | 0.9406 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/L | 0.9194 | likely_pathogenic | 0.9158 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/M | 0.9351 | likely_pathogenic | 0.9344 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| G/N | 0.8684 | likely_pathogenic | 0.8491 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/P | 0.9958 | likely_pathogenic | 0.9957 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.8878 | likely_pathogenic | 0.8736 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.8941 | likely_pathogenic | 0.8804 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.641170466 | None | None | I |
| G/S | 0.3525 | ambiguous | 0.34 | ambiguous | -1.189 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/T | 0.8009 | likely_pathogenic | 0.7965 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/V | 0.8908 | likely_pathogenic | 0.8901 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.657623796 | None | None | I |
| G/W | 0.9434 | likely_pathogenic | 0.9407 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/Y | 0.9419 | likely_pathogenic | 0.9375 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.771 | deleterious | 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.