Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31576 | 94951;94952;94953 | chr2:178546702;178546701;178546700 | chr2:179411429;179411428;179411427 |
| N2AB | 29935 | 90028;90029;90030 | chr2:178546702;178546701;178546700 | chr2:179411429;179411428;179411427 |
| N2A | 29008 | 87247;87248;87249 | chr2:178546702;178546701;178546700 | chr2:179411429;179411428;179411427 |
| N2B | 22511 | 67756;67757;67758 | chr2:178546702;178546701;178546700 | chr2:179411429;179411428;179411427 |
| Novex-1 | 22636 | 68131;68132;68133 | chr2:178546702;178546701;178546700 | chr2:179411429;179411428;179411427 |
| Novex-2 | 22703 | 68332;68333;68334 | chr2:178546702;178546701;178546700 | chr2:179411429;179411428;179411427 |
| 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/D | rs1363584144  |
-0.391 | 0.999 | N | 0.603 | 0.308 | 0.280181792013 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| E/D | rs1363584144 |
-0.391 | 0.999 | N | 0.603 | 0.308 | 0.280181792013 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| E/D | rs1363584144 |
-0.391 | 0.999 | N | 0.603 | 0.308 | 0.280181792013 | gnomAD-4.0.0 | 1.31425E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94014E-05 | 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 | 0.3777 | ambiguous | 0.4273 | ambiguous | -0.398 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.474696466 | None | None | N |
| E/C | 0.9771 | likely_pathogenic | 0.9796 | pathogenic | 0.23 | Stabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| E/D | 0.4541 | ambiguous | 0.4444 | ambiguous | -0.296 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.480220329 | None | None | N |
| E/F | 0.9794 | likely_pathogenic | 0.9821 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| E/G | 0.5868 | likely_pathogenic | 0.6069 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.495615559 | None | None | N |
| E/H | 0.9083 | likely_pathogenic | 0.9156 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| E/I | 0.8358 | likely_pathogenic | 0.8626 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| E/K | 0.5509 | ambiguous | 0.6014 | pathogenic | 0.447 | Stabilizing | 0.999 | D | 0.721 | prob.delet. | N | 0.487600162 | None | None | N |
| E/L | 0.8823 | likely_pathogenic | 0.9035 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| E/M | 0.8651 | likely_pathogenic | 0.8971 | pathogenic | 0.332 | Stabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| E/N | 0.7635 | likely_pathogenic | 0.7792 | pathogenic | 0.252 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| E/P | 0.6734 | likely_pathogenic | 0.6732 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| E/Q | 0.3501 | ambiguous | 0.4058 | ambiguous | 0.253 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.522079254 | None | None | N |
| E/R | 0.7094 | likely_pathogenic | 0.7331 | pathogenic | 0.448 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| E/S | 0.5541 | ambiguous | 0.586 | pathogenic | 0.087 | Stabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| E/T | 0.6776 | likely_pathogenic | 0.7149 | pathogenic | 0.23 | Stabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| E/V | 0.6281 | likely_pathogenic | 0.6844 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.480220329 | None | None | N |
| E/W | 0.9944 | likely_pathogenic | 0.9948 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| E/Y | 0.9654 | likely_pathogenic | 0.9678 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.638 | 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.