Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33430 | 100513;100514;100515 | chr2:178536459;178536458;178536457 | chr2:179401186;179401185;179401184 |
| N2AB | 31789 | 95590;95591;95592 | chr2:178536459;178536458;178536457 | chr2:179401186;179401185;179401184 |
| N2A | 30862 | 92809;92810;92811 | chr2:178536459;178536458;178536457 | chr2:179401186;179401185;179401184 |
| N2B | 24365 | 73318;73319;73320 | chr2:178536459;178536458;178536457 | chr2:179401186;179401185;179401184 |
| Novex-1 | 24490 | 73693;73694;73695 | chr2:178536459;178536458;178536457 | chr2:179401186;179401185;179401184 |
| Novex-2 | 24557 | 73894;73895;73896 | chr2:178536459;178536458;178536457 | chr2:179401186;179401185;179401184 |
| 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 | rs1451693700  |
-1.971 | 1.0 | D | 0.79 | 0.515 | 0.547512163748 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs1451693700 |
-1.971 | 1.0 | D | 0.79 | 0.515 | 0.547512163748 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs1451693700 |
-1.971 | 1.0 | D | 0.79 | 0.515 | 0.547512163748 | gnomAD-4.0.0 | 6.56866E-06 | None | None | None | None | N | None | 2.41161E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | None | None | 0.999 | N | 0.679 | 0.476 | 0.417334834585 | gnomAD-4.0.0 | 6.87785E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17603E-05 | 0 |
| E/Q | rs1306593983 |
-1.101 | 1.0 | N | 0.762 | 0.301 | 0.233150807113 | gnomAD-2.1.1 | 8.23E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.81E-05 | 0 |
| E/Q | rs1306593983 |
-1.101 | 1.0 | N | 0.762 | 0.301 | 0.233150807113 | gnomAD-4.0.0 | 6.87785E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02829E-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 | 0.7869 | likely_pathogenic | 0.7673 | pathogenic | 0.248 | Stabilizing | 0.999 | D | 0.746 | deleterious | D | 0.538483113 | None | None | N |
| E/C | 0.9813 | likely_pathogenic | 0.9772 | pathogenic | 0.646 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/D | 0.8861 | likely_pathogenic | 0.8044 | pathogenic | -1.275 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.48211966 | None | None | N |
| E/F | 0.9857 | likely_pathogenic | 0.9839 | pathogenic | 0.485 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| E/G | 0.8746 | likely_pathogenic | 0.8739 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.52873665 | None | None | N |
| E/H | 0.9605 | likely_pathogenic | 0.951 | pathogenic | 0.419 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| E/I | 0.9372 | likely_pathogenic | 0.9328 | pathogenic | 1.436 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| E/K | 0.8934 | likely_pathogenic | 0.9029 | pathogenic | 0.089 | Stabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.519111411 | None | None | N |
| E/L | 0.9464 | likely_pathogenic | 0.939 | pathogenic | 1.436 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| E/M | 0.9264 | likely_pathogenic | 0.9172 | pathogenic | 1.842 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| E/N | 0.9616 | likely_pathogenic | 0.9492 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| E/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | 1.061 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| E/Q | 0.3571 | ambiguous | 0.3865 | ambiguous | -0.022 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.466925013 | None | None | N |
| E/R | 0.9275 | likely_pathogenic | 0.937 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/S | 0.8608 | likely_pathogenic | 0.8348 | pathogenic | -0.844 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| E/T | 0.9101 | likely_pathogenic | 0.8993 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/V | 0.8491 | likely_pathogenic | 0.8407 | pathogenic | 1.061 | Stabilizing | 1.0 | D | 0.796 | deleterious | N | 0.521139327 | None | None | N |
| E/W | 0.9955 | likely_pathogenic | 0.9949 | pathogenic | 0.155 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/Y | 0.9824 | likely_pathogenic | 0.9799 | pathogenic | 0.684 | Stabilizing | 1.0 | D | 0.825 | 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.