Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17531 | 52816;52817;52818 | chr2:178608292;178608291;178608290 | chr2:179473019;179473018;179473017 |
| N2AB | 15890 | 47893;47894;47895 | chr2:178608292;178608291;178608290 | chr2:179473019;179473018;179473017 |
| N2A | 14963 | 45112;45113;45114 | chr2:178608292;178608291;178608290 | chr2:179473019;179473018;179473017 |
| N2B | 8466 | 25621;25622;25623 | chr2:178608292;178608291;178608290 | chr2:179473019;179473018;179473017 |
| Novex-1 | 8591 | 25996;25997;25998 | chr2:178608292;178608291;178608290 | chr2:179473019;179473018;179473017 |
| Novex-2 | 8658 | 26197;26198;26199 | chr2:178608292;178608291;178608290 | chr2:179473019;179473018;179473017 |
| 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 | rs764524150  |
-2.353 | 0.046 | N | 0.352 | 0.244 | 0.292787519742 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/A | rs764524150 |
-2.353 | 0.046 | N | 0.352 | 0.244 | 0.292787519742 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs764524150 |
-2.353 | 0.046 | N | 0.352 | 0.244 | 0.292787519742 | gnomAD-4.0.0 | 3.72175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24049E-06 | 0 | 1.60328E-05 |
| V/I | None | None | 0.863 | N | 0.561 | 0.207 | 0.49530441419 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1851 | likely_benign | 0.2321 | benign | -1.974 | Destabilizing | 0.046 | N | 0.352 | neutral | N | 0.477176271 | None | None | N |
| V/C | 0.7542 | likely_pathogenic | 0.7872 | pathogenic | -1.77 | Destabilizing | 0.999 | D | 0.832 | deleterious | None | None | None | None | N |
| V/D | 0.9375 | likely_pathogenic | 0.9637 | pathogenic | -1.829 | Destabilizing | 0.993 | D | 0.871 | deleterious | None | None | None | None | N |
| V/E | 0.8745 | likely_pathogenic | 0.908 | pathogenic | -1.661 | Destabilizing | 0.982 | D | 0.869 | deleterious | D | 0.543770394 | None | None | N |
| V/F | 0.6018 | likely_pathogenic | 0.6485 | pathogenic | -1.317 | Destabilizing | 0.998 | D | 0.818 | deleterious | None | None | None | None | N |
| V/G | 0.609 | likely_pathogenic | 0.7088 | pathogenic | -2.478 | Highly Destabilizing | 0.964 | D | 0.823 | deleterious | D | 0.532249505 | None | None | N |
| V/H | 0.9531 | likely_pathogenic | 0.9664 | pathogenic | -2.051 | Highly Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| V/I | 0.1177 | likely_benign | 0.1192 | benign | -0.602 | Destabilizing | 0.863 | D | 0.561 | neutral | N | 0.512422408 | None | None | N |
| V/K | 0.9253 | likely_pathogenic | 0.9483 | pathogenic | -1.615 | Destabilizing | 0.986 | D | 0.876 | deleterious | None | None | None | None | N |
| V/L | 0.5998 | likely_pathogenic | 0.6331 | pathogenic | -0.602 | Destabilizing | 0.863 | D | 0.669 | neutral | N | 0.520537672 | None | None | N |
| V/M | 0.457 | ambiguous | 0.4741 | ambiguous | -0.681 | Destabilizing | 0.998 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/N | 0.8514 | likely_pathogenic | 0.9044 | pathogenic | -1.778 | Destabilizing | 0.993 | D | 0.882 | deleterious | None | None | None | None | N |
| V/P | 0.9351 | likely_pathogenic | 0.9569 | pathogenic | -1.028 | Destabilizing | 0.993 | D | 0.877 | deleterious | None | None | None | None | N |
| V/Q | 0.8768 | likely_pathogenic | 0.9097 | pathogenic | -1.676 | Destabilizing | 0.993 | D | 0.877 | deleterious | None | None | None | None | N |
| V/R | 0.896 | likely_pathogenic | 0.9234 | pathogenic | -1.388 | Destabilizing | 0.993 | D | 0.873 | deleterious | None | None | None | None | N |
| V/S | 0.4722 | ambiguous | 0.5876 | pathogenic | -2.504 | Highly Destabilizing | 0.973 | D | 0.834 | deleterious | None | None | None | None | N |
| V/T | 0.2747 | likely_benign | 0.3195 | benign | -2.17 | Highly Destabilizing | 0.953 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/W | 0.9852 | likely_pathogenic | 0.9876 | pathogenic | -1.624 | Destabilizing | 0.999 | D | 0.864 | deleterious | None | None | None | None | N |
| V/Y | 0.9204 | likely_pathogenic | 0.9374 | pathogenic | -1.283 | Destabilizing | 0.998 | D | 0.819 | 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.