Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30414 | 91465;91466;91467 | chr2:178551660;178551659;178551658 | chr2:179416387;179416386;179416385 |
| N2AB | 28773 | 86542;86543;86544 | chr2:178551660;178551659;178551658 | chr2:179416387;179416386;179416385 |
| N2A | 27846 | 83761;83762;83763 | chr2:178551660;178551659;178551658 | chr2:179416387;179416386;179416385 |
| N2B | 21349 | 64270;64271;64272 | chr2:178551660;178551659;178551658 | chr2:179416387;179416386;179416385 |
| Novex-1 | 21474 | 64645;64646;64647 | chr2:178551660;178551659;178551658 | chr2:179416387;179416386;179416385 |
| Novex-2 | 21541 | 64846;64847;64848 | chr2:178551660;178551659;178551658 | chr2:179416387;179416386;179416385 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1699490262  |
None | 0.355 | D | 0.331 | 0.299 | 0.166414681773 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.44E-05 | 0 | 0 | 0 | 0 |
| S/N | rs1699490262 |
None | 0.355 | D | 0.331 | 0.299 | 0.166414681773 | gnomAD-4.0.0 | 3.94937E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.16096E-05 | 0 | 2.46099E-06 | 0 | 0 |
| S/T | None | None | 0.976 | N | 0.639 | 0.167 | 0.168933306366 | gnomAD-4.0.0 | 1.64589E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.95543E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2667 | likely_benign | 0.2778 | benign | -0.767 | Destabilizing | 0.978 | D | 0.675 | prob.neutral | None | None | None | None | N |
| S/C | 0.1887 | likely_benign | 0.2078 | benign | -0.453 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.508334082 | None | None | N |
| S/D | 0.983 | likely_pathogenic | 0.9834 | pathogenic | -1.159 | Destabilizing | 0.965 | D | 0.645 | neutral | None | None | None | None | N |
| S/E | 0.9918 | likely_pathogenic | 0.9931 | pathogenic | -0.979 | Destabilizing | 0.982 | D | 0.673 | prob.neutral | None | None | None | None | N |
| S/F | 0.9732 | likely_pathogenic | 0.976 | pathogenic | -0.454 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| S/G | 0.3116 | likely_benign | 0.3078 | benign | -1.156 | Destabilizing | 0.976 | D | 0.649 | prob.neutral | N | 0.503218747 | None | None | N |
| S/H | 0.9808 | likely_pathogenic | 0.9821 | pathogenic | -1.42 | Destabilizing | 0.999 | D | 0.674 | prob.neutral | None | None | None | None | N |
| S/I | 0.8933 | likely_pathogenic | 0.918 | pathogenic | 0.22 | Stabilizing | 0.999 | D | 0.767 | deleterious | N | 0.487895515 | None | None | N |
| S/K | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -0.35 | Destabilizing | 0.982 | D | 0.677 | prob.neutral | None | None | None | None | N |
| S/L | 0.7132 | likely_pathogenic | 0.7396 | pathogenic | 0.22 | Stabilizing | 0.997 | D | 0.782 | deleterious | None | None | None | None | N |
| S/M | 0.8347 | likely_pathogenic | 0.8537 | pathogenic | 0.078 | Stabilizing | 1.0 | D | 0.69 | prob.delet. | None | None | None | None | N |
| S/N | 0.8963 | likely_pathogenic | 0.9003 | pathogenic | -0.908 | Destabilizing | 0.355 | N | 0.331 | neutral | D | 0.526184848 | None | None | N |
| S/P | 0.9862 | likely_pathogenic | 0.9873 | pathogenic | -0.075 | Destabilizing | 0.999 | D | 0.703 | prob.delet. | None | None | None | None | N |
| S/Q | 0.9855 | likely_pathogenic | 0.9874 | pathogenic | -0.675 | Destabilizing | 0.997 | D | 0.707 | prob.delet. | None | None | None | None | N |
| S/R | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -0.672 | Destabilizing | 0.997 | D | 0.704 | prob.delet. | D | 0.525677869 | None | None | N |
| S/T | 0.1837 | likely_benign | 0.1878 | benign | -0.622 | Destabilizing | 0.976 | D | 0.639 | neutral | N | 0.473743803 | None | None | N |
| S/V | 0.7376 | likely_pathogenic | 0.7821 | pathogenic | -0.075 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| S/W | 0.9893 | likely_pathogenic | 0.9901 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| S/Y | 0.9768 | likely_pathogenic | 0.9793 | pathogenic | -0.282 | Destabilizing | 0.999 | D | 0.786 | 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.