Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2954 | 9085;9086;9087 | chr2:178769721;178769720;178769719 | chr2:179634448;179634447;179634446 |
| N2AB | 2954 | 9085;9086;9087 | chr2:178769721;178769720;178769719 | chr2:179634448;179634447;179634446 |
| N2A | 2954 | 9085;9086;9087 | chr2:178769721;178769720;178769719 | chr2:179634448;179634447;179634446 |
| N2B | 2908 | 8947;8948;8949 | chr2:178769721;178769720;178769719 | chr2:179634448;179634447;179634446 |
| Novex-1 | 2908 | 8947;8948;8949 | chr2:178769721;178769720;178769719 | chr2:179634448;179634447;179634446 |
| Novex-2 | 2908 | 8947;8948;8949 | chr2:178769721;178769720;178769719 | chr2:179634448;179634447;179634446 |
| Novex-3 | 2954 | 9085;9086;9087 | chr2:178769721;178769720;178769719 | chr2:179634448;179634447;179634446 |
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/D | rs973559075  |
None | 0.999 | N | 0.829 | 0.734 | 0.8565603 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/F | rs762256991 |
-1.228 | 0.998 | D | 0.777 | 0.485 | 0.842837 | gnomAD-2.1.1 | 5.33E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 5.98182E-04 | 0 | 0 |
| V/F | rs762256991 |
-1.228 | 0.998 | D | 0.777 | 0.485 | 0.842837 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.47E-05 | 0 | 0 | 0 | 0 |
| V/F | rs762256991 |
-1.228 | 0.998 | D | 0.777 | 0.485 | 0.842837 | gnomAD-4.0.0 | 1.17756E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.97358E-04 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.543 | N | 0.273 | 0.183 | 0.60324967 | gnomAD-4.0.0 | 6.84212E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99433E-07 | 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 | 0.5648 | likely_pathogenic | 0.5973 | pathogenic | -1.762 | Destabilizing | 0.994 | D | 0.593 | neutral | N | 0.50182724 | None | None | N |
| V/C | 0.8771 | likely_pathogenic | 0.8877 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| V/D | 0.8894 | likely_pathogenic | 0.8884 | pathogenic | -1.66 | Destabilizing | 0.999 | D | 0.829 | deleterious | N | 0.5120426 | None | None | N |
| V/E | 0.6979 | likely_pathogenic | 0.7373 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/F | 0.3921 | ambiguous | 0.411 | ambiguous | -1.133 | Destabilizing | 0.998 | D | 0.777 | deleterious | D | 0.53976613 | None | None | N |
| V/G | 0.7464 | likely_pathogenic | 0.7548 | pathogenic | -2.193 | Highly Destabilizing | 0.999 | D | 0.805 | deleterious | D | 0.64492923 | None | None | N |
| V/H | 0.8077 | likely_pathogenic | 0.8486 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| V/I | 0.0815 | likely_benign | 0.0869 | benign | -0.627 | Destabilizing | 0.543 | D | 0.273 | neutral | N | 0.46134263 | None | None | N |
| V/K | 0.6116 | likely_pathogenic | 0.7014 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/L | 0.3727 | ambiguous | 0.4103 | ambiguous | -0.627 | Destabilizing | 0.948 | D | 0.479 | neutral | N | 0.51110506 | None | None | N |
| V/M | 0.2893 | likely_benign | 0.336 | benign | -0.614 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/N | 0.7129 | likely_pathogenic | 0.7514 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| V/P | 0.9952 | likely_pathogenic | 0.9928 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/Q | 0.5606 | ambiguous | 0.6366 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/R | 0.5444 | ambiguous | 0.6155 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/S | 0.5722 | likely_pathogenic | 0.6047 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/T | 0.4573 | ambiguous | 0.5029 | ambiguous | -1.761 | Destabilizing | 0.996 | D | 0.637 | neutral | None | None | None | None | N |
| V/W | 0.956 | likely_pathogenic | 0.9617 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/Y | 0.8124 | likely_pathogenic | 0.8362 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.792 | 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.