Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28647 | 86164;86165;86166 | chr2:178560193;178560192;178560191 | chr2:179424920;179424919;179424918 |
| N2AB | 27006 | 81241;81242;81243 | chr2:178560193;178560192;178560191 | chr2:179424920;179424919;179424918 |
| N2A | 26079 | 78460;78461;78462 | chr2:178560193;178560192;178560191 | chr2:179424920;179424919;179424918 |
| N2B | 19582 | 58969;58970;58971 | chr2:178560193;178560192;178560191 | chr2:179424920;179424919;179424918 |
| Novex-1 | 19707 | 59344;59345;59346 | chr2:178560193;178560192;178560191 | chr2:179424920;179424919;179424918 |
| Novex-2 | 19774 | 59545;59546;59547 | chr2:178560193;178560192;178560191 | chr2:179424920;179424919;179424918 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1378020700  |
None | 1.0 | N | 0.791 | 0.308 | 0.286081765059 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs1378020700 |
None | 1.0 | N | 0.791 | 0.308 | 0.286081765059 | gnomAD-4.0.0 | 7.105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.22965E-06 | 0 | 3.40252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7908 | likely_pathogenic | 0.7569 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.735 | deleterious | N | 0.512491405 | None | None | N |
| D/C | 0.9778 | likely_pathogenic | 0.97 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/E | 0.5987 | likely_pathogenic | 0.5833 | pathogenic | -0.304 | Destabilizing | 0.999 | D | 0.455 | neutral | N | 0.494119075 | None | None | N |
| D/F | 0.962 | likely_pathogenic | 0.9438 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| D/G | 0.8774 | likely_pathogenic | 0.8541 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.475604611 | None | None | N |
| D/H | 0.8986 | likely_pathogenic | 0.8777 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.886 | deleterious | N | 0.469581131 | None | None | N |
| D/I | 0.9039 | likely_pathogenic | 0.8712 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/K | 0.9449 | likely_pathogenic | 0.9404 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/L | 0.8933 | likely_pathogenic | 0.8633 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| D/M | 0.956 | likely_pathogenic | 0.9441 | pathogenic | 0.307 | Stabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| D/N | 0.3932 | ambiguous | 0.369 | ambiguous | 0.077 | Stabilizing | 1.0 | D | 0.791 | deleterious | N | 0.464870643 | None | None | N |
| D/P | 0.9673 | likely_pathogenic | 0.9653 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/Q | 0.9293 | likely_pathogenic | 0.9218 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/R | 0.9645 | likely_pathogenic | 0.9599 | pathogenic | 0.398 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| D/S | 0.6711 | likely_pathogenic | 0.6345 | pathogenic | -0.048 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/T | 0.8719 | likely_pathogenic | 0.8429 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/V | 0.8148 | likely_pathogenic | 0.7581 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.77 | deleterious | N | 0.496799966 | None | None | N |
| D/W | 0.993 | likely_pathogenic | 0.9922 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/Y | 0.756 | likely_pathogenic | 0.7073 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.502079885 | 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.