Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28534 | 85825;85826;85827 | chr2:178560532;178560531;178560530 | chr2:179425259;179425258;179425257 |
| N2AB | 26893 | 80902;80903;80904 | chr2:178560532;178560531;178560530 | chr2:179425259;179425258;179425257 |
| N2A | 25966 | 78121;78122;78123 | chr2:178560532;178560531;178560530 | chr2:179425259;179425258;179425257 |
| N2B | 19469 | 58630;58631;58632 | chr2:178560532;178560531;178560530 | chr2:179425259;179425258;179425257 |
| Novex-1 | 19594 | 59005;59006;59007 | chr2:178560532;178560531;178560530 | chr2:179425259;179425258;179425257 |
| Novex-2 | 19661 | 59206;59207;59208 | chr2:178560532;178560531;178560530 | chr2:179425259;179425258;179425257 |
| 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/S | None | None | 1.0 | N | 0.817 | 0.436 | 0.330589388543 | gnomAD-4.0.0 | 2.73782E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59847E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5732 | likely_pathogenic | 0.5524 | ambiguous | -0.886 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.553849707 | None | None | N |
| G/C | 0.8145 | likely_pathogenic | 0.8177 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.555624133 | None | None | N |
| G/D | 0.9608 | likely_pathogenic | 0.9568 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.54325387 | None | None | N |
| G/E | 0.9707 | likely_pathogenic | 0.9649 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| G/F | 0.9938 | likely_pathogenic | 0.993 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/H | 0.9844 | likely_pathogenic | 0.9844 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/I | 0.987 | likely_pathogenic | 0.9855 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| G/K | 0.9906 | likely_pathogenic | 0.9886 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| G/L | 0.9828 | likely_pathogenic | 0.9822 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/M | 0.9874 | likely_pathogenic | 0.9868 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/N | 0.9667 | likely_pathogenic | 0.9636 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/P | 0.9974 | likely_pathogenic | 0.9973 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| G/Q | 0.9765 | likely_pathogenic | 0.9732 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/R | 0.9658 | likely_pathogenic | 0.9601 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.543507359 | None | None | N |
| G/S | 0.254 | likely_benign | 0.2715 | benign | -1.301 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.477829832 | None | None | N |
| G/T | 0.8226 | likely_pathogenic | 0.8265 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| G/V | 0.9658 | likely_pathogenic | 0.9611 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.555117154 | None | None | N |
| G/W | 0.9707 | likely_pathogenic | 0.9701 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/Y | 0.9885 | likely_pathogenic | 0.9884 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.895 | 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.