Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33076 | 99451;99452;99453 | chr2:178538603;178538602;178538601 | chr2:179403330;179403329;179403328 |
| N2AB | 31435 | 94528;94529;94530 | chr2:178538603;178538602;178538601 | chr2:179403330;179403329;179403328 |
| N2A | 30508 | 91747;91748;91749 | chr2:178538603;178538602;178538601 | chr2:179403330;179403329;179403328 |
| N2B | 24011 | 72256;72257;72258 | chr2:178538603;178538602;178538601 | chr2:179403330;179403329;179403328 |
| Novex-1 | 24136 | 72631;72632;72633 | chr2:178538603;178538602;178538601 | chr2:179403330;179403329;179403328 |
| Novex-2 | 24203 | 72832;72833;72834 | chr2:178538603;178538602;178538601 | chr2:179403330;179403329;179403328 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs1304767671  |
-1.351 | 0.999 | N | 0.466 | 0.242 | 0.340510301474 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 1.18203E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/D | rs1304767671 |
-1.351 | 0.999 | N | 0.466 | 0.242 | 0.340510301474 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| E/D | rs1304767671 |
-1.351 | 0.999 | N | 0.466 | 0.242 | 0.340510301474 | gnomAD-4.0.0 | 9.13418E-06 | None | None | None | None | N | None | 0 | 6.15385E-05 | None | 0 | 0 | None | 0 | 0 | 7.22949E-06 | 0 | 6.80457E-05 |
| E/K | rs1281110554 |
-0.418 | 0.999 | N | 0.484 | 0.389 | 0.329020015101 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/K | rs1281110554 |
-0.418 | 0.999 | N | 0.484 | 0.389 | 0.329020015101 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| E/K | rs1281110554 |
-0.418 | 0.999 | N | 0.484 | 0.389 | 0.329020015101 | gnomAD-4.0.0 | 2.56247E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34027E-05 | 2.84463E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6479 | likely_pathogenic | 0.6927 | pathogenic | -1.024 | Destabilizing | 0.999 | D | 0.629 | neutral | N | 0.498180887 | None | None | N |
| E/C | 0.983 | likely_pathogenic | 0.9857 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| E/D | 0.8483 | likely_pathogenic | 0.8737 | pathogenic | -1.344 | Destabilizing | 0.999 | D | 0.466 | neutral | N | 0.501158513 | None | None | N |
| E/F | 0.9848 | likely_pathogenic | 0.9873 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| E/G | 0.8229 | likely_pathogenic | 0.8355 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.489802208 | None | None | N |
| E/H | 0.9665 | likely_pathogenic | 0.9729 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| E/I | 0.8405 | likely_pathogenic | 0.8731 | pathogenic | 0.11 | Stabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| E/K | 0.7814 | likely_pathogenic | 0.7997 | pathogenic | -0.82 | Destabilizing | 0.999 | D | 0.484 | neutral | N | 0.494833938 | None | None | N |
| E/L | 0.9088 | likely_pathogenic | 0.9333 | pathogenic | 0.11 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| E/M | 0.889 | likely_pathogenic | 0.9139 | pathogenic | 0.703 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| E/N | 0.9557 | likely_pathogenic | 0.9658 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| E/P | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| E/Q | 0.4694 | ambiguous | 0.5064 | ambiguous | -1.094 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.444213117 | None | None | N |
| E/R | 0.8836 | likely_pathogenic | 0.8917 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| E/S | 0.8153 | likely_pathogenic | 0.8418 | pathogenic | -1.728 | Destabilizing | 0.999 | D | 0.52 | neutral | None | None | None | None | N |
| E/T | 0.8618 | likely_pathogenic | 0.8813 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| E/V | 0.6515 | likely_pathogenic | 0.6976 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.431872964 | None | None | N |
| E/W | 0.9967 | likely_pathogenic | 0.9969 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| E/Y | 0.9817 | likely_pathogenic | 0.9848 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.832 | 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.