Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20792 | 62599;62600;62601 | chr2:178589351;178589350;178589349 | chr2:179454078;179454077;179454076 |
| N2AB | 19151 | 57676;57677;57678 | chr2:178589351;178589350;178589349 | chr2:179454078;179454077;179454076 |
| N2A | 18224 | 54895;54896;54897 | chr2:178589351;178589350;178589349 | chr2:179454078;179454077;179454076 |
| N2B | 11727 | 35404;35405;35406 | chr2:178589351;178589350;178589349 | chr2:179454078;179454077;179454076 |
| Novex-1 | 11852 | 35779;35780;35781 | chr2:178589351;178589350;178589349 | chr2:179454078;179454077;179454076 |
| Novex-2 | 11919 | 35980;35981;35982 | chr2:178589351;178589350;178589349 | chr2:179454078;179454077;179454076 |
| 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 | None | None | 0.016 | N | 0.375 | 0.122 | 0.192905019026 | gnomAD-4.0.0 | 6.84381E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99606E-07 | 0 | 0 |
| G/E | rs1223753533  |
-1.587 | 0.946 | N | 0.795 | 0.272 | 0.516491959214 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11844E-04 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1223753533 |
-1.587 | 0.946 | N | 0.795 | 0.272 | 0.516491959214 | gnomAD-4.0.0 | 2.05314E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.5704E-05 | None | 0 | 0 | 0 | 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 | 0.0509 | likely_benign | 0.0701 | benign | -0.814 | Destabilizing | 0.016 | N | 0.375 | neutral | N | 0.376481907 | None | None | N |
| G/C | 0.1495 | likely_benign | 0.1899 | benign | -1.222 | Destabilizing | 0.994 | D | 0.837 | deleterious | None | None | None | None | N |
| G/D | 0.2162 | likely_benign | 0.3153 | benign | -1.567 | Destabilizing | 0.959 | D | 0.791 | deleterious | None | None | None | None | N |
| G/E | 0.1951 | likely_benign | 0.2755 | benign | -1.627 | Destabilizing | 0.946 | D | 0.795 | deleterious | N | 0.351468819 | None | None | N |
| G/F | 0.2891 | likely_benign | 0.431 | ambiguous | -1.221 | Destabilizing | 0.994 | D | 0.843 | deleterious | None | None | None | None | N |
| G/H | 0.3083 | likely_benign | 0.3929 | ambiguous | -1.4 | Destabilizing | 0.998 | D | 0.841 | deleterious | None | None | None | None | N |
| G/I | 0.113 | likely_benign | 0.1559 | benign | -0.439 | Destabilizing | 0.959 | D | 0.843 | deleterious | None | None | None | None | N |
| G/K | 0.3931 | ambiguous | 0.5084 | ambiguous | -1.332 | Destabilizing | 0.959 | D | 0.797 | deleterious | None | None | None | None | N |
| G/L | 0.1552 | likely_benign | 0.2416 | benign | -0.439 | Destabilizing | 0.921 | D | 0.79 | deleterious | None | None | None | None | N |
| G/M | 0.1806 | likely_benign | 0.273 | benign | -0.408 | Destabilizing | 0.994 | D | 0.833 | deleterious | None | None | None | None | N |
| G/N | 0.1566 | likely_benign | 0.2326 | benign | -1.075 | Destabilizing | 0.959 | D | 0.777 | deleterious | None | None | None | None | N |
| G/P | 0.6574 | likely_pathogenic | 0.8385 | pathogenic | -0.523 | Destabilizing | 0.979 | D | 0.823 | deleterious | None | None | None | None | N |
| G/Q | 0.2401 | likely_benign | 0.3269 | benign | -1.293 | Destabilizing | 0.979 | D | 0.848 | deleterious | None | None | None | None | N |
| G/R | 0.3206 | likely_benign | 0.3824 | ambiguous | -0.994 | Destabilizing | 0.946 | D | 0.841 | deleterious | N | 0.357722788 | None | None | N |
| G/S | 0.0672 | likely_benign | 0.0784 | benign | -1.312 | Destabilizing | 0.375 | N | 0.406 | neutral | None | None | None | None | N |
| G/T | 0.068 | likely_benign | 0.0929 | benign | -1.292 | Destabilizing | 0.921 | D | 0.781 | deleterious | None | None | None | None | N |
| G/V | 0.0796 | likely_benign | 0.1023 | benign | -0.523 | Destabilizing | 0.898 | D | 0.791 | deleterious | N | 0.396646535 | None | None | N |
| G/W | 0.3293 | likely_benign | 0.3933 | ambiguous | -1.544 | Destabilizing | 0.998 | D | 0.834 | deleterious | N | 0.492962361 | None | None | N |
| G/Y | 0.3021 | likely_benign | 0.4074 | ambiguous | -1.139 | Destabilizing | 0.998 | D | 0.844 | 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.