Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19075 | 57448;57449;57450 | chr2:178597947;178597946;178597945 | chr2:179462674;179462673;179462672 |
| N2AB | 17434 | 52525;52526;52527 | chr2:178597947;178597946;178597945 | chr2:179462674;179462673;179462672 |
| N2A | 16507 | 49744;49745;49746 | chr2:178597947;178597946;178597945 | chr2:179462674;179462673;179462672 |
| N2B | 10010 | 30253;30254;30255 | chr2:178597947;178597946;178597945 | chr2:179462674;179462673;179462672 |
| Novex-1 | 10135 | 30628;30629;30630 | chr2:178597947;178597946;178597945 | chr2:179462674;179462673;179462672 |
| Novex-2 | 10202 | 30829;30830;30831 | chr2:178597947;178597946;178597945 | chr2:179462674;179462673;179462672 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs2154190109  |
None | 1.0 | N | 0.674 | 0.417 | 0.275641507738 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52576E-05 | None | 0 | 0 | 8.99635E-07 | 0 | 0 |
| G/E | None | None | 1.0 | N | 0.81 | 0.448 | 0.424313518543 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52576E-05 | None | 0 | 0 | 0 | 1.15985E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1781 | likely_benign | 0.152 | benign | -0.978 | Destabilizing | 1.0 | D | 0.674 | neutral | N | 0.464284305 | None | None | N |
| G/C | 0.5146 | ambiguous | 0.4769 | ambiguous | -1.003 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/D | 0.8962 | likely_pathogenic | 0.8878 | pathogenic | -2.336 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/E | 0.8543 | likely_pathogenic | 0.8482 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.476565663 | None | None | N |
| G/F | 0.9507 | likely_pathogenic | 0.9491 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/H | 0.9302 | likely_pathogenic | 0.9226 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/I | 0.8487 | likely_pathogenic | 0.8371 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/K | 0.9371 | likely_pathogenic | 0.9219 | pathogenic | -1.536 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/L | 0.8805 | likely_pathogenic | 0.8688 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/M | 0.8842 | likely_pathogenic | 0.8738 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/N | 0.8851 | likely_pathogenic | 0.8776 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/P | 0.9935 | likely_pathogenic | 0.9935 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/Q | 0.8549 | likely_pathogenic | 0.8377 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/R | 0.8381 | likely_pathogenic | 0.7951 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.477326131 | None | None | N |
| G/S | 0.2191 | likely_benign | 0.1984 | benign | -1.659 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/T | 0.5269 | ambiguous | 0.4787 | ambiguous | -1.53 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/V | 0.6605 | likely_pathogenic | 0.6269 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.476312173 | None | None | N |
| G/W | 0.9267 | likely_pathogenic | 0.918 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/Y | 0.9309 | likely_pathogenic | 0.926 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.829 | 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.