Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14430 | 43513;43514;43515 | chr2:178632718;178632717;178632716 | chr2:179497445;179497444;179497443 |
| N2AB | 12789 | 38590;38591;38592 | chr2:178632718;178632717;178632716 | chr2:179497445;179497444;179497443 |
| N2A | 11862 | 35809;35810;35811 | chr2:178632718;178632717;178632716 | chr2:179497445;179497444;179497443 |
| N2B | 5365 | 16318;16319;16320 | chr2:178632718;178632717;178632716 | chr2:179497445;179497444;179497443 |
| Novex-1 | 5490 | 16693;16694;16695 | chr2:178632718;178632717;178632716 | chr2:179497445;179497444;179497443 |
| Novex-2 | 5557 | 16894;16895;16896 | chr2:178632718;178632717;178632716 | chr2:179497445;179497444;179497443 |
| 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 | rs531051064  |
-1.337 | 0.999 | D | 0.453 | 0.284 | 0.309839678437 | gnomAD-2.1.1 | 6.46E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.92658E-04 | None | 0 | None | 0 | 0 | 0 |
| E/D | rs531051064 |
-1.337 | 0.999 | D | 0.453 | 0.284 | 0.309839678437 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.8117E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/D | rs531051064 |
-1.337 | 0.999 | D | 0.453 | 0.284 | 0.309839678437 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| E/D | rs531051064 |
-1.337 | 0.999 | D | 0.453 | 0.284 | 0.309839678437 | gnomAD-4.0.0 | 1.85941E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57886E-04 | None | 0 | 0 | 0 | 3.29417E-05 | 3.20215E-05 |
| E/G | None | None | 1.0 | D | 0.757 | 0.523 | 0.557207555769 | gnomAD-4.0.0 | 1.59215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-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 | 0.2818 | likely_benign | 0.2759 | benign | -0.745 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | D | 0.574486826 | None | None | N |
| E/C | 0.9531 | likely_pathogenic | 0.942 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| E/D | 0.4965 | ambiguous | 0.4973 | ambiguous | -1.39 | Destabilizing | 0.999 | D | 0.453 | neutral | D | 0.610088984 | None | None | N |
| E/F | 0.9007 | likely_pathogenic | 0.8935 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/G | 0.5042 | ambiguous | 0.5153 | ambiguous | -1.086 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.664140746 | None | None | N |
| E/H | 0.754 | likely_pathogenic | 0.7397 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| E/I | 0.5161 | ambiguous | 0.4872 | ambiguous | 0.173 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| E/K | 0.2527 | likely_benign | 0.2721 | benign | -0.859 | Destabilizing | 0.999 | D | 0.557 | neutral | D | 0.528582095 | None | None | N |
| E/L | 0.6526 | likely_pathogenic | 0.6334 | pathogenic | 0.173 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| E/M | 0.5927 | likely_pathogenic | 0.5657 | pathogenic | 0.689 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| E/N | 0.6258 | likely_pathogenic | 0.6353 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| E/P | 0.9889 | likely_pathogenic | 0.9875 | pathogenic | -0.112 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| E/Q | 0.2355 | likely_benign | 0.2353 | benign | -0.992 | Destabilizing | 1.0 | D | 0.61 | neutral | D | 0.549884581 | None | None | N |
| E/R | 0.4603 | ambiguous | 0.4598 | ambiguous | -0.794 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| E/S | 0.4231 | ambiguous | 0.426 | ambiguous | -1.513 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | N |
| E/T | 0.38 | ambiguous | 0.375 | ambiguous | -1.227 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| E/V | 0.3335 | likely_benign | 0.3061 | benign | -0.112 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.592189747 | None | None | N |
| E/W | 0.9748 | likely_pathogenic | 0.9686 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| E/Y | 0.8726 | likely_pathogenic | 0.8658 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.775 | 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.