Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23134 | 69625;69626;69627 | chr2:178576935;178576934;178576933 | chr2:179441662;179441661;179441660 |
| N2AB | 21493 | 64702;64703;64704 | chr2:178576935;178576934;178576933 | chr2:179441662;179441661;179441660 |
| N2A | 20566 | 61921;61922;61923 | chr2:178576935;178576934;178576933 | chr2:179441662;179441661;179441660 |
| N2B | 14069 | 42430;42431;42432 | chr2:178576935;178576934;178576933 | chr2:179441662;179441661;179441660 |
| Novex-1 | 14194 | 42805;42806;42807 | chr2:178576935;178576934;178576933 | chr2:179441662;179441661;179441660 |
| Novex-2 | 14261 | 43006;43007;43008 | chr2:178576935;178576934;178576933 | chr2:179441662;179441661;179441660 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1373489781  |
None | 0.501 | N | 0.409 | 0.073 | 0.540561900723 | gnomAD-4.0.0 | 1.37114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80152E-06 | 0 | 0 |
| V/L | rs1373489781 |
-0.474 | 0.293 | N | 0.367 | 0.096 | 0.432041664125 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.67392E-04 |
| V/L | rs1373489781 |
-0.474 | 0.293 | N | 0.367 | 0.096 | 0.432041664125 | gnomAD-4.0.0 | 6.85572E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.66058E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1228 | likely_benign | 0.1258 | benign | -1.286 | Destabilizing | 0.293 | N | 0.272 | neutral | N | 0.472986946 | None | None | N |
| V/C | 0.7035 | likely_pathogenic | 0.712 | pathogenic | -0.87 | Destabilizing | 0.991 | D | 0.403 | neutral | None | None | None | None | N |
| V/D | 0.368 | ambiguous | 0.4105 | ambiguous | -1.269 | Destabilizing | 0.4 | N | 0.58 | neutral | None | None | None | None | N |
| V/E | 0.2037 | likely_benign | 0.2058 | benign | -1.346 | Destabilizing | 0.013 | N | 0.353 | neutral | N | 0.435892783 | None | None | N |
| V/F | 0.2345 | likely_benign | 0.2463 | benign | -1.3 | Destabilizing | 0.966 | D | 0.375 | neutral | None | None | None | None | N |
| V/G | 0.225 | likely_benign | 0.2322 | benign | -1.513 | Destabilizing | 0.501 | D | 0.549 | neutral | N | 0.468813278 | None | None | N |
| V/H | 0.5196 | ambiguous | 0.5313 | ambiguous | -1.0 | Destabilizing | 0.973 | D | 0.635 | neutral | None | None | None | None | N |
| V/I | 0.0822 | likely_benign | 0.0843 | benign | -0.792 | Destabilizing | 0.501 | D | 0.409 | neutral | N | 0.498480037 | None | None | N |
| V/K | 0.2203 | likely_benign | 0.2386 | benign | -0.982 | Destabilizing | 0.4 | N | 0.403 | neutral | None | None | None | None | N |
| V/L | 0.1911 | likely_benign | 0.1964 | benign | -0.792 | Destabilizing | 0.293 | N | 0.367 | neutral | N | 0.469330566 | None | None | N |
| V/M | 0.1272 | likely_benign | 0.1235 | benign | -0.487 | Destabilizing | 0.966 | D | 0.293 | neutral | None | None | None | None | N |
| V/N | 0.2726 | likely_benign | 0.3032 | benign | -0.698 | Destabilizing | 0.824 | D | 0.628 | neutral | None | None | None | None | N |
| V/P | 0.8984 | likely_pathogenic | 0.9143 | pathogenic | -0.922 | Destabilizing | 0.966 | D | 0.603 | neutral | None | None | None | None | N |
| V/Q | 0.2102 | likely_benign | 0.2131 | benign | -1.01 | Destabilizing | 0.824 | D | 0.581 | neutral | None | None | None | None | N |
| V/R | 0.2056 | likely_benign | 0.2176 | benign | -0.342 | Destabilizing | 0.01 | N | 0.479 | neutral | None | None | None | None | N |
| V/S | 0.1758 | likely_benign | 0.1897 | benign | -1.132 | Destabilizing | 0.4 | N | 0.457 | neutral | None | None | None | None | N |
| V/T | 0.1017 | likely_benign | 0.1038 | benign | -1.113 | Destabilizing | 0.018 | N | 0.274 | neutral | None | None | None | None | N |
| V/W | 0.824 | likely_pathogenic | 0.8143 | pathogenic | -1.374 | Destabilizing | 0.991 | D | 0.729 | deleterious | None | None | None | None | N |
| V/Y | 0.5891 | likely_pathogenic | 0.6234 | pathogenic | -1.101 | Destabilizing | 0.966 | D | 0.372 | neutral | 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.