Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26597 | 80014;80015;80016 | chr2:178566343;178566342;178566341 | chr2:179431070;179431069;179431068 |
| N2AB | 24956 | 75091;75092;75093 | chr2:178566343;178566342;178566341 | chr2:179431070;179431069;179431068 |
| N2A | 24029 | 72310;72311;72312 | chr2:178566343;178566342;178566341 | chr2:179431070;179431069;179431068 |
| N2B | 17532 | 52819;52820;52821 | chr2:178566343;178566342;178566341 | chr2:179431070;179431069;179431068 |
| Novex-1 | 17657 | 53194;53195;53196 | chr2:178566343;178566342;178566341 | chr2:179431070;179431069;179431068 |
| Novex-2 | 17724 | 53395;53396;53397 | chr2:178566343;178566342;178566341 | chr2:179431070;179431069;179431068 |
| 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/K | rs763312873  |
0.513 | 1.0 | N | 0.656 | 0.356 | 0.358948522604 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/K | rs763312873 |
0.513 | 1.0 | N | 0.656 | 0.356 | 0.358948522604 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs763312873 |
0.513 | 1.0 | N | 0.656 | 0.356 | 0.358948522604 | gnomAD-4.0.0 | 9.29733E-06 | None | None | None | None | N | None | 0 | 5.004E-05 | None | 0 | 2.22965E-05 | None | 0 | 0 | 8.47692E-06 | 1.09789E-05 | 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 | 0.4022 | ambiguous | 0.3315 | benign | -0.37 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | N | 0.459828435 | None | None | N |
| E/C | 0.9587 | likely_pathogenic | 0.9524 | pathogenic | 0.066 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| E/D | 0.1261 | likely_benign | 0.1213 | benign | -0.217 | Destabilizing | 0.434 | N | 0.321 | neutral | N | 0.411959917 | None | None | N |
| E/F | 0.933 | likely_pathogenic | 0.9121 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/G | 0.4577 | ambiguous | 0.3893 | ambiguous | -0.554 | Destabilizing | 0.999 | D | 0.649 | neutral | D | 0.533864834 | None | None | N |
| E/H | 0.7956 | likely_pathogenic | 0.7575 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/I | 0.7413 | likely_pathogenic | 0.6785 | pathogenic | 0.078 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| E/K | 0.5792 | likely_pathogenic | 0.5086 | ambiguous | 0.446 | Stabilizing | 1.0 | D | 0.656 | neutral | N | 0.471872226 | None | None | N |
| E/L | 0.7583 | likely_pathogenic | 0.683 | pathogenic | 0.078 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| E/M | 0.806 | likely_pathogenic | 0.7506 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| E/N | 0.4762 | ambiguous | 0.4285 | ambiguous | 0.119 | Stabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/P | 0.8839 | likely_pathogenic | 0.8744 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| E/Q | 0.3923 | ambiguous | 0.345 | ambiguous | 0.16 | Stabilizing | 1.0 | D | 0.632 | neutral | N | 0.51458564 | None | None | N |
| E/R | 0.7169 | likely_pathogenic | 0.6752 | pathogenic | 0.584 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| E/S | 0.3899 | ambiguous | 0.3417 | ambiguous | -0.034 | Destabilizing | 0.997 | D | 0.67 | neutral | None | None | None | None | N |
| E/T | 0.5294 | ambiguous | 0.452 | ambiguous | 0.123 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| E/V | 0.5358 | ambiguous | 0.4627 | ambiguous | -0.051 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | D | 0.5331714 | None | None | N |
| E/W | 0.9794 | likely_pathogenic | 0.9747 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| E/Y | 0.8605 | likely_pathogenic | 0.8264 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | 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.