Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7255 | 21988;21989;21990 | chr2:178723244;178723243;178723242 | chr2:179587971;179587970;179587969 |
| N2AB | 6938 | 21037;21038;21039 | chr2:178723244;178723243;178723242 | chr2:179587971;179587970;179587969 |
| N2A | 6011 | 18256;18257;18258 | chr2:178723244;178723243;178723242 | chr2:179587971;179587970;179587969 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.974 | D | 0.552 | 0.596 | 0.5551182358 | gnomAD-4.0.0 | 1.36861E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79907E-06 | 0 | 0 |
| G/V | rs1429557332  |
0.171 | 1.0 | D | 0.786 | 0.675 | 0.849212857558 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66445E-04 |
| G/V | rs1429557332 |
0.171 | 1.0 | D | 0.786 | 0.675 | 0.849212857558 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs1429557332 |
0.171 | 1.0 | D | 0.786 | 0.675 | 0.849212857558 | gnomAD-4.0.0 | 2.47917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39072E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5499 | ambiguous | 0.6779 | pathogenic | -0.275 | Destabilizing | 0.974 | D | 0.552 | neutral | D | 0.576466173 | None | None | N |
| G/C | 0.9287 | likely_pathogenic | 0.9573 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| G/D | 0.978 | likely_pathogenic | 0.9861 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/E | 0.9836 | likely_pathogenic | 0.9898 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.603933041 | None | None | N |
| G/F | 0.9929 | likely_pathogenic | 0.9947 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/H | 0.9934 | likely_pathogenic | 0.996 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| G/I | 0.9806 | likely_pathogenic | 0.9889 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/K | 0.9914 | likely_pathogenic | 0.9945 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/L | 0.9857 | likely_pathogenic | 0.991 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/M | 0.9909 | likely_pathogenic | 0.9948 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/N | 0.9785 | likely_pathogenic | 0.9875 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/P | 0.995 | likely_pathogenic | 0.9962 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/Q | 0.9874 | likely_pathogenic | 0.9921 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/R | 0.9733 | likely_pathogenic | 0.9819 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.604547377 | None | None | N |
| G/S | 0.6184 | likely_pathogenic | 0.7526 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/T | 0.9299 | likely_pathogenic | 0.9616 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/V | 0.9456 | likely_pathogenic | 0.9675 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.652837625 | None | None | N |
| G/W | 0.989 | likely_pathogenic | 0.9914 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/Y | 0.9902 | likely_pathogenic | 0.9932 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.754 | 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.