Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5185 | 15778;15779;15780 | chr2:178733836;178733835;178733834 | chr2:179598563;179598562;179598561 |
| N2AB | 4868 | 14827;14828;14829 | chr2:178733836;178733835;178733834 | chr2:179598563;179598562;179598561 |
| N2A | 3941 | 12046;12047;12048 | chr2:178733836;178733835;178733834 | chr2:179598563;179598562;179598561 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | N | 0.549 | 0.307 | 0.516884031612 | gnomAD-4.0.0 | 6.84303E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99598E-07 | 0 | 0 |
| V/D | None | None | 1.0 | D | 0.868 | 0.613 | 0.864880158096 | gnomAD-4.0.0 | 6.84303E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99598E-07 | 0 | 0 |
| V/I | rs370535651  |
-0.385 | 0.999 | N | 0.507 | 0.306 | None | gnomAD-2.1.1 | 1.037E-04 | None | None | None | None | N | None | 5.37323E-04 | 8.5E-05 | None | 9.69E-05 | 3.59159E-04 | None | 3.27E-05 | None | 0 | 2.35E-05 | 1.40964E-04 |
| V/I | rs370535651 |
-0.385 | 0.999 | N | 0.507 | 0.306 | None | gnomAD-3.1.2 | 1.44649E-04 | None | None | None | None | N | None | 3.86212E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| V/I | rs370535651 |
-0.385 | 0.999 | N | 0.507 | 0.306 | None | gnomAD-4.0.0 | 4.0291E-05 | None | None | None | None | N | None | 3.4713E-04 | 8.33861E-05 | None | 0 | 2.0066E-04 | None | 0 | 1.64582E-04 | 1.4413E-05 | 2.19688E-05 | 8.00769E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1699 | likely_benign | 0.1884 | benign | -1.423 | Destabilizing | 0.999 | D | 0.549 | neutral | N | 0.449318152 | None | None | N |
| V/C | 0.798 | likely_pathogenic | 0.8259 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/D | 0.8857 | likely_pathogenic | 0.9223 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.753094451 | None | None | N |
| V/E | 0.7881 | likely_pathogenic | 0.8531 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/F | 0.3349 | likely_benign | 0.3989 | ambiguous | -0.894 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.61168242 | None | None | N |
| V/G | 0.4054 | ambiguous | 0.4719 | ambiguous | -1.809 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.622361222 | None | None | N |
| V/H | 0.9176 | likely_pathogenic | 0.9457 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/I | 0.0824 | likely_benign | 0.0862 | benign | -0.442 | Destabilizing | 0.999 | D | 0.507 | neutral | N | 0.446852743 | None | None | N |
| V/K | 0.8392 | likely_pathogenic | 0.8916 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| V/L | 0.2856 | likely_benign | 0.3196 | benign | -0.442 | Destabilizing | 0.999 | D | 0.56 | neutral | N | 0.444360421 | None | None | N |
| V/M | 0.207 | likely_benign | 0.237 | benign | -0.477 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| V/N | 0.7446 | likely_pathogenic | 0.818 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/P | 0.9153 | likely_pathogenic | 0.9419 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/Q | 0.7877 | likely_pathogenic | 0.8541 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/R | 0.8074 | likely_pathogenic | 0.859 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/S | 0.4507 | ambiguous | 0.5136 | ambiguous | -1.902 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/T | 0.2797 | likely_benign | 0.3207 | benign | -1.697 | Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| V/W | 0.9542 | likely_pathogenic | 0.9697 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Y | 0.8129 | likely_pathogenic | 0.8701 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.873 | 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.