Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33308 | 100147;100148;100149 | chr2:178537187;178537186;178537185 | chr2:179401914;179401913;179401912 |
| N2AB | 31667 | 95224;95225;95226 | chr2:178537187;178537186;178537185 | chr2:179401914;179401913;179401912 |
| N2A | 30740 | 92443;92444;92445 | chr2:178537187;178537186;178537185 | chr2:179401914;179401913;179401912 |
| N2B | 24243 | 72952;72953;72954 | chr2:178537187;178537186;178537185 | chr2:179401914;179401913;179401912 |
| Novex-1 | 24368 | 73327;73328;73329 | chr2:178537187;178537186;178537185 | chr2:179401914;179401913;179401912 |
| Novex-2 | 24435 | 73528;73529;73530 | chr2:178537187;178537186;178537185 | chr2:179401914;179401913;179401912 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs201226974  |
-1.187 | 0.064 | N | 0.483 | 0.183 | None | gnomAD-2.1.1 | 9.3E-05 | None | None | None | None | N | None | 0 | 8.5E-05 | None | 7.77152E-04 | 5.13E-05 | None | 6.55E-05 | None | 0 | 9.4E-05 | 0 |
| A/T | rs201226974 |
-1.187 | 0.064 | N | 0.483 | 0.183 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88184E-04 | 1.9253E-04 | None | 0 | 0 | 1.02908E-04 | 0 | 0 |
| A/T | rs201226974 |
-1.187 | 0.064 | N | 0.483 | 0.183 | None | gnomAD-4.0.0 | 5.08347E-05 | None | None | None | None | N | None | 0 | 6.67223E-05 | None | 7.10131E-04 | 2.22886E-05 | None | 0 | 0 | 4.15466E-05 | 4.39387E-05 | 4.80538E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5075 | ambiguous | 0.5306 | ambiguous | -0.898 | Destabilizing | 0.356 | N | 0.671 | neutral | None | None | None | None | N |
| A/D | 0.9898 | likely_pathogenic | 0.9874 | pathogenic | -2.245 | Highly Destabilizing | 0.136 | N | 0.776 | deleterious | None | None | None | None | N |
| A/E | 0.9666 | likely_pathogenic | 0.9582 | pathogenic | -1.952 | Destabilizing | 0.106 | N | 0.745 | deleterious | N | 0.497409077 | None | None | N |
| A/F | 0.7683 | likely_pathogenic | 0.7083 | pathogenic | -0.449 | Destabilizing | 0.072 | N | 0.752 | deleterious | None | None | None | None | N |
| A/G | 0.5429 | ambiguous | 0.5354 | ambiguous | -1.514 | Destabilizing | 0.047 | N | 0.557 | neutral | N | 0.497409077 | None | None | N |
| A/H | 0.9818 | likely_pathogenic | 0.9805 | pathogenic | -2.138 | Highly Destabilizing | 0.628 | D | 0.757 | deleterious | None | None | None | None | N |
| A/I | 0.2323 | likely_benign | 0.1544 | benign | 0.675 | Stabilizing | None | N | 0.461 | neutral | None | None | None | None | N |
| A/K | 0.9881 | likely_pathogenic | 0.9851 | pathogenic | -0.99 | Destabilizing | 0.136 | N | 0.727 | prob.delet. | None | None | None | None | N |
| A/L | 0.2334 | likely_benign | 0.1886 | benign | 0.675 | Stabilizing | None | N | 0.464 | neutral | None | None | None | None | N |
| A/M | 0.3257 | likely_benign | 0.2756 | benign | 0.273 | Stabilizing | 0.214 | N | 0.804 | deleterious | None | None | None | None | N |
| A/N | 0.9613 | likely_pathogenic | 0.9505 | pathogenic | -1.545 | Destabilizing | 0.628 | D | 0.8 | deleterious | None | None | None | None | N |
| A/P | 0.986 | likely_pathogenic | 0.9852 | pathogenic | 0.183 | Stabilizing | 0.232 | N | 0.781 | deleterious | N | 0.497409077 | None | None | N |
| A/Q | 0.9475 | likely_pathogenic | 0.9437 | pathogenic | -1.146 | Destabilizing | 0.628 | D | 0.798 | deleterious | None | None | None | None | N |
| A/R | 0.9701 | likely_pathogenic | 0.9654 | pathogenic | -1.405 | Destabilizing | 0.356 | N | 0.797 | deleterious | None | None | None | None | N |
| A/S | 0.3843 | ambiguous | 0.3782 | ambiguous | -1.962 | Destabilizing | 0.058 | N | 0.533 | neutral | N | 0.485799282 | None | None | N |
| A/T | 0.2188 | likely_benign | 0.1841 | benign | -1.508 | Destabilizing | 0.064 | N | 0.483 | neutral | N | 0.485545793 | None | None | N |
| A/V | 0.0904 | likely_benign | 0.0576 | benign | 0.183 | Stabilizing | None | N | 0.173 | neutral | N | 0.3972776 | None | None | N |
| A/W | 0.9886 | likely_pathogenic | 0.9868 | pathogenic | -1.343 | Destabilizing | 0.864 | D | 0.753 | deleterious | None | None | None | None | N |
| A/Y | 0.9547 | likely_pathogenic | 0.9456 | pathogenic | -0.705 | Destabilizing | 0.136 | N | 0.787 | 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.