Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9102 | 27529;27530;27531 | chr2:178712721;178712720;178712719 | chr2:179577448;179577447;179577446 |
| N2AB | 8785 | 26578;26579;26580 | chr2:178712721;178712720;178712719 | chr2:179577448;179577447;179577446 |
| N2A | 7858 | 23797;23798;23799 | chr2:178712721;178712720;178712719 | chr2:179577448;179577447;179577446 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 0.681 | D | 0.793 | 0.317 | 0.735732525777 | gnomAD-4.0.0 | 6.84289E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 0 | 0 |
| C/R | None | None | 0.009 | D | 0.679 | 0.36 | 0.720485838999 | gnomAD-4.0.0 | 8.21118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07945E-05 | 0 | 0 |
| C/S | None | None | 0.549 | N | 0.773 | 0.321 | 0.590021811661 | gnomAD-4.0.0 | 6.84289E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 0 | 0 |
| C/Y | rs779332931  |
-1.448 | 0.004 | N | 0.638 | 0.28 | 0.60763662857 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/Y | rs779332931 |
-1.448 | 0.004 | N | 0.638 | 0.28 | 0.60763662857 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31922E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4533 | ambiguous | 0.4914 | ambiguous | -1.751 | Destabilizing | 0.4 | N | 0.703 | prob.neutral | None | None | None | None | N |
| C/D | 0.7848 | likely_pathogenic | 0.8481 | pathogenic | -0.369 | Destabilizing | 0.92 | D | 0.82 | deleterious | None | None | None | None | N |
| C/E | 0.8965 | likely_pathogenic | 0.9315 | pathogenic | -0.232 | Destabilizing | 0.85 | D | 0.811 | deleterious | None | None | None | None | N |
| C/F | 0.3187 | likely_benign | 0.3573 | ambiguous | -1.134 | Destabilizing | 0.681 | D | 0.793 | deleterious | D | 0.529595164 | None | None | N |
| C/G | 0.2867 | likely_benign | 0.3149 | benign | -2.077 | Highly Destabilizing | 0.712 | D | 0.786 | deleterious | N | 0.48875743 | None | None | N |
| C/H | 0.7016 | likely_pathogenic | 0.7437 | pathogenic | -2.166 | Highly Destabilizing | 0.85 | D | 0.806 | deleterious | None | None | None | None | N |
| C/I | 0.614 | likely_pathogenic | 0.6481 | pathogenic | -0.902 | Destabilizing | 0.85 | D | 0.813 | deleterious | None | None | None | None | N |
| C/K | 0.9287 | likely_pathogenic | 0.9506 | pathogenic | -0.805 | Destabilizing | 0.447 | N | 0.801 | deleterious | None | None | None | None | N |
| C/L | 0.6104 | likely_pathogenic | 0.6535 | pathogenic | -0.902 | Destabilizing | 0.447 | N | 0.757 | deleterious | None | None | None | None | N |
| C/M | 0.7185 | likely_pathogenic | 0.7631 | pathogenic | -0.017 | Destabilizing | 0.972 | D | 0.775 | deleterious | None | None | None | None | N |
| C/N | 0.6668 | likely_pathogenic | 0.7193 | pathogenic | -0.914 | Destabilizing | 0.92 | D | 0.825 | deleterious | None | None | None | None | N |
| C/P | 0.9932 | likely_pathogenic | 0.9943 | pathogenic | -1.16 | Destabilizing | 0.972 | D | 0.833 | deleterious | None | None | None | None | N |
| C/Q | 0.7765 | likely_pathogenic | 0.8286 | pathogenic | -0.728 | Destabilizing | 0.85 | D | 0.831 | deleterious | None | None | None | None | N |
| C/R | 0.6772 | likely_pathogenic | 0.7411 | pathogenic | -0.882 | Destabilizing | 0.009 | N | 0.679 | prob.neutral | D | 0.535000984 | None | None | N |
| C/S | 0.2739 | likely_benign | 0.2892 | benign | -1.435 | Destabilizing | 0.549 | D | 0.773 | deleterious | N | 0.503272568 | None | None | N |
| C/T | 0.4665 | ambiguous | 0.5149 | ambiguous | -1.106 | Destabilizing | 0.766 | D | 0.773 | deleterious | None | None | None | None | N |
| C/V | 0.4997 | ambiguous | 0.5266 | ambiguous | -1.16 | Destabilizing | 0.617 | D | 0.772 | deleterious | None | None | None | None | N |
| C/W | 0.7184 | likely_pathogenic | 0.7368 | pathogenic | -1.192 | Destabilizing | 0.009 | N | 0.633 | neutral | N | 0.500874204 | None | None | N |
| C/Y | 0.5051 | ambiguous | 0.5509 | ambiguous | -1.13 | Destabilizing | 0.004 | N | 0.638 | neutral | N | 0.483744227 | 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.