Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34386 | 103381;103382;103383 | chr2:178533459;178533458;178533457 | chr2:179398186;179398185;179398184 |
| N2AB | 32745 | 98458;98459;98460 | chr2:178533459;178533458;178533457 | chr2:179398186;179398185;179398184 |
| N2A | 31818 | 95677;95678;95679 | chr2:178533459;178533458;178533457 | chr2:179398186;179398185;179398184 |
| N2B | 25321 | 76186;76187;76188 | chr2:178533459;178533458;178533457 | chr2:179398186;179398185;179398184 |
| Novex-1 | 25446 | 76561;76562;76563 | chr2:178533459;178533458;178533457 | chr2:179398186;179398185;179398184 |
| Novex-2 | 25513 | 76762;76763;76764 | chr2:178533459;178533458;178533457 | chr2:179398186;179398185;179398184 |
| 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 | rs1407044012  |
-2.721 | 0.999 | N | 0.623 | 0.676 | 0.663921437314 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/A | rs1407044012 |
-2.721 | 0.999 | N | 0.623 | 0.676 | 0.663921437314 | gnomAD-4.0.0 | 6.84275E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9957E-07 | 0 | 0 |
| V/E | None | None | 1.0 | D | 0.865 | 0.876 | 0.875711544465 | gnomAD-4.0.0 | 6.84275E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9957E-07 | 0 | 0 |
| V/M | rs763989580 |
-0.97 | 1.0 | D | 0.757 | 0.646 | 0.682792094187 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| V/M | rs763989580 |
-0.97 | 1.0 | D | 0.757 | 0.646 | 0.682792094187 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/M | rs763989580 |
-0.97 | 1.0 | D | 0.757 | 0.646 | 0.682792094187 | gnomAD-4.0.0 | 6.1973E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62916E-06 | 1.09786E-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 | 0.9212 | likely_pathogenic | 0.8957 | pathogenic | -1.963 | Destabilizing | 0.999 | D | 0.623 | neutral | N | 0.505131942 | None | None | N |
| V/C | 0.9737 | likely_pathogenic | 0.9676 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/D | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -2.696 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/E | 0.9955 | likely_pathogenic | 0.9939 | pathogenic | -2.412 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.616875335 | None | None | N |
| V/F | 0.9409 | likely_pathogenic | 0.9052 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/G | 0.9609 | likely_pathogenic | 0.9538 | pathogenic | -2.557 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.616875335 | None | None | N |
| V/H | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -2.431 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/I | 0.1659 | likely_benign | 0.1201 | benign | -0.268 | Destabilizing | 0.998 | D | 0.562 | neutral | None | None | None | None | N |
| V/K | 0.9966 | likely_pathogenic | 0.996 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/L | 0.8659 | likely_pathogenic | 0.752 | pathogenic | -0.268 | Destabilizing | 0.997 | D | 0.638 | neutral | D | 0.537748268 | None | None | N |
| V/M | 0.8962 | likely_pathogenic | 0.8081 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.579093218 | None | None | N |
| V/N | 0.9948 | likely_pathogenic | 0.9928 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/P | 0.9969 | likely_pathogenic | 0.9954 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/Q | 0.9955 | likely_pathogenic | 0.9941 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/R | 0.9939 | likely_pathogenic | 0.9927 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/S | 0.9793 | likely_pathogenic | 0.9738 | pathogenic | -2.551 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/T | 0.9392 | likely_pathogenic | 0.921 | pathogenic | -2.11 | Highly Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| V/W | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/Y | 0.9932 | likely_pathogenic | 0.9915 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.855 | 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.