Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14506 | 43741;43742;43743 | chr2:178632378;178632377;178632376 | chr2:179497105;179497104;179497103 |
| N2AB | 12865 | 38818;38819;38820 | chr2:178632378;178632377;178632376 | chr2:179497105;179497104;179497103 |
| N2A | 11938 | 36037;36038;36039 | chr2:178632378;178632377;178632376 | chr2:179497105;179497104;179497103 |
| N2B | 5441 | 16546;16547;16548 | chr2:178632378;178632377;178632376 | chr2:179497105;179497104;179497103 |
| Novex-1 | 5566 | 16921;16922;16923 | chr2:178632378;178632377;178632376 | chr2:179497105;179497104;179497103 |
| Novex-2 | 5633 | 17122;17123;17124 | chr2:178632378;178632377;178632376 | chr2:179497105;179497104;179497103 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1270698475  |
-1.4 | 0.998 | D | 0.455 | 0.568 | 0.740382078105 | gnomAD-2.1.1 | 4.33E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.64E-05 | None | 0 | 0 | 0 |
| V/A | rs1270698475 |
-1.4 | 0.998 | D | 0.455 | 0.568 | 0.740382078105 | gnomAD-4.0.0 | 1.62406E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.49943E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3915 | ambiguous | 0.334 | benign | -1.34 | Destabilizing | 0.998 | D | 0.455 | neutral | D | 0.591450824 | None | None | N |
| V/C | 0.8787 | likely_pathogenic | 0.8728 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/D | 0.6554 | likely_pathogenic | 0.5867 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| V/E | 0.461 | ambiguous | 0.3705 | ambiguous | -0.911 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.636304647 | None | None | N |
| V/F | 0.3138 | likely_benign | 0.2763 | benign | -1.062 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | None | None | None | None | N |
| V/G | 0.5325 | ambiguous | 0.51 | ambiguous | -1.666 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.596256487 | None | None | N |
| V/H | 0.793 | likely_pathogenic | 0.7374 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| V/I | 0.0831 | likely_benign | 0.0791 | benign | -0.548 | Destabilizing | 0.981 | D | 0.471 | neutral | N | 0.517907606 | None | None | N |
| V/K | 0.4394 | ambiguous | 0.3525 | ambiguous | -0.982 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| V/L | 0.4081 | ambiguous | 0.3568 | ambiguous | -0.548 | Destabilizing | 0.434 | N | 0.266 | neutral | N | 0.517434514 | None | None | N |
| V/M | 0.198 | likely_benign | 0.1752 | benign | -0.44 | Destabilizing | 0.999 | D | 0.654 | neutral | None | None | None | None | N |
| V/N | 0.5404 | ambiguous | 0.48 | ambiguous | -0.801 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| V/P | 0.9834 | likely_pathogenic | 0.9811 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/Q | 0.4679 | ambiguous | 0.3921 | ambiguous | -0.932 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| V/R | 0.4167 | ambiguous | 0.359 | ambiguous | -0.568 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| V/S | 0.5076 | ambiguous | 0.4538 | ambiguous | -1.361 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| V/T | 0.323 | likely_benign | 0.2695 | benign | -1.233 | Destabilizing | 0.998 | D | 0.481 | neutral | None | None | None | None | N |
| V/W | 0.9479 | likely_pathogenic | 0.9359 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/Y | 0.7817 | likely_pathogenic | 0.7381 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.751 | 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.