Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1099 | 3520;3521;3522 | chr2:178782297;178782296;178782295 | chr2:179647024;179647023;179647022 |
| N2AB | 1099 | 3520;3521;3522 | chr2:178782297;178782296;178782295 | chr2:179647024;179647023;179647022 |
| N2A | 1099 | 3520;3521;3522 | chr2:178782297;178782296;178782295 | chr2:179647024;179647023;179647022 |
| N2B | 1053 | 3382;3383;3384 | chr2:178782297;178782296;178782295 | chr2:179647024;179647023;179647022 |
| Novex-1 | 1053 | 3382;3383;3384 | chr2:178782297;178782296;178782295 | chr2:179647024;179647023;179647022 |
| Novex-2 | 1053 | 3382;3383;3384 | chr2:178782297;178782296;178782295 | chr2:179647024;179647023;179647022 |
| Novex-3 | 1099 | 3520;3521;3522 | chr2:178782297;178782296;178782295 | chr2:179647024;179647023;179647022 |
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/M | rs368282893  |
-0.435 | 0.908 | N | 0.711 | 0.197 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 8.47E-05 | None | 0 | 0 | None | 0 | None | 0 | 4.65E-05 | 0 |
| V/M | rs368282893 |
-0.435 | 0.908 | N | 0.711 | 0.197 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| V/M | rs368282893 |
-0.435 | 0.908 | N | 0.711 | 0.197 | None | gnomAD-4.0.0 | 5.88565E-05 | None | None | None | None | N | None | 1.19952E-04 | 4.99933E-05 | None | 0 | 0 | None | 0 | 4.94886E-04 | 6.35592E-05 | 1.09796E-05 | 6.39939E-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 | 0.3954 | ambiguous | 0.4063 | ambiguous | -1.32 | Destabilizing | 0.334 | N | 0.574 | neutral | N | 0.382160525 | None | None | N |
| V/C | 0.8923 | likely_pathogenic | 0.8877 | pathogenic | -1.182 | Destabilizing | 0.982 | D | 0.807 | deleterious | None | None | None | None | N |
| V/D | 0.9492 | likely_pathogenic | 0.9495 | pathogenic | -0.495 | Destabilizing | 0.826 | D | 0.841 | deleterious | None | None | None | None | N |
| V/E | 0.8757 | likely_pathogenic | 0.8751 | pathogenic | -0.382 | Destabilizing | 0.781 | D | 0.832 | deleterious | D | 0.587694793 | None | None | N |
| V/F | 0.4737 | ambiguous | 0.4453 | ambiguous | -0.75 | Destabilizing | 0.7 | D | 0.84 | deleterious | None | None | None | None | N |
| V/G | 0.7911 | likely_pathogenic | 0.7943 | pathogenic | -1.745 | Destabilizing | 0.781 | D | 0.844 | deleterious | N | 0.465568927 | None | None | N |
| V/H | 0.946 | likely_pathogenic | 0.9444 | pathogenic | -1.256 | Destabilizing | 0.982 | D | 0.844 | deleterious | None | None | None | None | N |
| V/I | 0.0696 | likely_benign | 0.0673 | benign | -0.218 | Destabilizing | 0.002 | N | 0.231 | neutral | None | None | None | None | N |
| V/K | 0.8841 | likely_pathogenic | 0.887 | pathogenic | -0.896 | Destabilizing | 0.826 | D | 0.832 | deleterious | None | None | None | None | N |
| V/L | 0.3364 | likely_benign | 0.3219 | benign | -0.218 | Destabilizing | 0.083 | N | 0.485 | neutral | N | 0.454117746 | None | None | N |
| V/M | 0.2806 | likely_benign | 0.2608 | benign | -0.429 | Destabilizing | 0.908 | D | 0.711 | prob.delet. | N | 0.521934771 | None | None | N |
| V/N | 0.8205 | likely_pathogenic | 0.8196 | pathogenic | -0.944 | Destabilizing | 0.935 | D | 0.864 | deleterious | None | None | None | None | N |
| V/P | 0.9746 | likely_pathogenic | 0.9767 | pathogenic | -0.551 | Destabilizing | 0.935 | D | 0.842 | deleterious | None | None | None | None | N |
| V/Q | 0.8635 | likely_pathogenic | 0.8646 | pathogenic | -0.873 | Destabilizing | 0.935 | D | 0.852 | deleterious | None | None | None | None | N |
| V/R | 0.8304 | likely_pathogenic | 0.8373 | pathogenic | -0.73 | Destabilizing | 0.826 | D | 0.865 | deleterious | None | None | None | None | N |
| V/S | 0.6514 | likely_pathogenic | 0.6583 | pathogenic | -1.692 | Destabilizing | 0.826 | D | 0.829 | deleterious | None | None | None | None | N |
| V/T | 0.3817 | ambiguous | 0.3982 | ambiguous | -1.427 | Destabilizing | 0.399 | N | 0.677 | prob.neutral | None | None | None | None | N |
| V/W | 0.9754 | likely_pathogenic | 0.9727 | pathogenic | -0.989 | Destabilizing | 0.982 | D | 0.82 | deleterious | None | None | None | None | N |
| V/Y | 0.9042 | likely_pathogenic | 0.8982 | pathogenic | -0.619 | Destabilizing | 0.826 | D | 0.835 | 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.