Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2920 | 8983;8984;8985 | chr2:178769823;178769822;178769821 | chr2:179634550;179634549;179634548 |
| N2AB | 2920 | 8983;8984;8985 | chr2:178769823;178769822;178769821 | chr2:179634550;179634549;179634548 |
| N2A | 2920 | 8983;8984;8985 | chr2:178769823;178769822;178769821 | chr2:179634550;179634549;179634548 |
| N2B | 2874 | 8845;8846;8847 | chr2:178769823;178769822;178769821 | chr2:179634550;179634549;179634548 |
| Novex-1 | 2874 | 8845;8846;8847 | chr2:178769823;178769822;178769821 | chr2:179634550;179634549;179634548 |
| Novex-2 | 2874 | 8845;8846;8847 | chr2:178769823;178769822;178769821 | chr2:179634550;179634549;179634548 |
| Novex-3 | 2920 | 8983;8984;8985 | chr2:178769823;178769822;178769821 | chr2:179634550;179634549;179634548 |
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 | None | None | 1.0 | D | 0.673 | 0.614 | 0.634766356543 | gnomAD-4.0.0 | 1.59046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85651E-06 | 0 | 0 |
| E/Q | rs911601060  |
-0.075 | 1.0 | D | 0.605 | 0.37 | 0.362960570912 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs911601060 |
-0.075 | 1.0 | D | 0.605 | 0.37 | 0.362960570912 | gnomAD-4.0.0 | 1.59047E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.543 | ambiguous | 0.4473 | ambiguous | -0.534 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | N | 0.50811947 | None | None | N |
| E/C | 0.9857 | likely_pathogenic | 0.9827 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| E/D | 0.8007 | likely_pathogenic | 0.7288 | pathogenic | -0.579 | Destabilizing | 0.999 | D | 0.479 | neutral | D | 0.62357905 | None | None | N |
| E/F | 0.9899 | likely_pathogenic | 0.9847 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/G | 0.7919 | likely_pathogenic | 0.713 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.673 | neutral | D | 0.629599922 | None | None | N |
| E/H | 0.9663 | likely_pathogenic | 0.9553 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| E/I | 0.8836 | likely_pathogenic | 0.8376 | pathogenic | 0.142 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| E/K | 0.74 | likely_pathogenic | 0.6603 | pathogenic | -0.102 | Destabilizing | 0.999 | D | 0.628 | neutral | D | 0.541221757 | None | None | N |
| E/L | 0.9052 | likely_pathogenic | 0.863 | pathogenic | 0.142 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/M | 0.8896 | likely_pathogenic | 0.8437 | pathogenic | 0.164 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| E/N | 0.9214 | likely_pathogenic | 0.8735 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| E/P | 0.8458 | likely_pathogenic | 0.8038 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| E/Q | 0.5572 | ambiguous | 0.4991 | ambiguous | -0.457 | Destabilizing | 1.0 | D | 0.605 | neutral | D | 0.532847594 | None | None | N |
| E/R | 0.8459 | likely_pathogenic | 0.8075 | pathogenic | 0.264 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| E/S | 0.8221 | likely_pathogenic | 0.7455 | pathogenic | -0.723 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| E/T | 0.8254 | likely_pathogenic | 0.7622 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| E/V | 0.7235 | likely_pathogenic | 0.6558 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.514811077 | None | None | N |
| E/W | 0.9976 | likely_pathogenic | 0.9965 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| E/Y | 0.9856 | likely_pathogenic | 0.9783 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.667 | 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.