Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28801 | 86626;86627;86628 | chr2:178559731;178559730;178559729 | chr2:179424458;179424457;179424456 |
| N2AB | 27160 | 81703;81704;81705 | chr2:178559731;178559730;178559729 | chr2:179424458;179424457;179424456 |
| N2A | 26233 | 78922;78923;78924 | chr2:178559731;178559730;178559729 | chr2:179424458;179424457;179424456 |
| N2B | 19736 | 59431;59432;59433 | chr2:178559731;178559730;178559729 | chr2:179424458;179424457;179424456 |
| Novex-1 | 19861 | 59806;59807;59808 | chr2:178559731;178559730;178559729 | chr2:179424458;179424457;179424456 |
| Novex-2 | 19928 | 60007;60008;60009 | chr2:178559731;178559730;178559729 | chr2:179424458;179424457;179424456 |
| 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/A | rs994118977  |
None | 0.052 | N | 0.307 | 0.333 | 0.579595062312 | 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 |
| V/A | rs994118977 |
None | 0.052 | N | 0.307 | 0.333 | 0.579595062312 | gnomAD-4.0.0 | 1.87456E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5583E-06 | 0 | 0 |
| V/F | None | None | 0.117 | N | 0.476 | 0.26 | 0.74889119722 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | None | None | None | N | 0.121 | 0.179 | 0.337868961071 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2035 | likely_benign | 0.2163 | benign | -1.293 | Destabilizing | 0.052 | N | 0.307 | neutral | N | 0.49048499 | None | None | N |
| V/C | 0.6487 | likely_pathogenic | 0.6635 | pathogenic | -0.851 | Destabilizing | 0.791 | D | 0.493 | neutral | None | None | None | None | N |
| V/D | 0.6682 | likely_pathogenic | 0.6795 | pathogenic | -0.516 | Destabilizing | 0.484 | N | 0.578 | neutral | N | 0.518442382 | None | None | N |
| V/E | 0.4928 | ambiguous | 0.4898 | ambiguous | -0.5 | Destabilizing | 0.555 | D | 0.547 | neutral | None | None | None | None | N |
| V/F | 0.1623 | likely_benign | 0.1625 | benign | -0.993 | Destabilizing | 0.117 | N | 0.476 | neutral | N | 0.509513468 | None | None | N |
| V/G | 0.3501 | ambiguous | 0.3689 | ambiguous | -1.621 | Destabilizing | 0.211 | N | 0.566 | neutral | N | 0.493893353 | None | None | N |
| V/H | 0.6534 | likely_pathogenic | 0.6592 | pathogenic | -1.114 | Destabilizing | 0.935 | D | 0.585 | neutral | None | None | None | None | N |
| V/I | 0.0539 | likely_benign | 0.0528 | benign | -0.494 | Destabilizing | None | N | 0.121 | neutral | N | 0.34835673 | None | None | N |
| V/K | 0.5298 | ambiguous | 0.519 | ambiguous | -0.803 | Destabilizing | 0.555 | D | 0.548 | neutral | None | None | None | None | N |
| V/L | 0.1191 | likely_benign | 0.118 | benign | -0.494 | Destabilizing | 0.002 | N | 0.261 | neutral | N | 0.441152248 | None | None | N |
| V/M | 0.1011 | likely_benign | 0.1014 | benign | -0.432 | Destabilizing | 0.38 | N | 0.463 | neutral | None | None | None | None | N |
| V/N | 0.4206 | ambiguous | 0.4138 | ambiguous | -0.592 | Destabilizing | 0.791 | D | 0.587 | neutral | None | None | None | None | N |
| V/P | 0.7608 | likely_pathogenic | 0.7722 | pathogenic | -0.724 | Destabilizing | 0.791 | D | 0.549 | neutral | None | None | None | None | N |
| V/Q | 0.4804 | ambiguous | 0.478 | ambiguous | -0.696 | Destabilizing | 0.791 | D | 0.559 | neutral | None | None | None | None | N |
| V/R | 0.4369 | ambiguous | 0.4366 | ambiguous | -0.422 | Destabilizing | 0.555 | D | 0.585 | neutral | None | None | None | None | N |
| V/S | 0.2784 | likely_benign | 0.2891 | benign | -1.224 | Destabilizing | 0.262 | N | 0.49 | neutral | None | None | None | None | N |
| V/T | 0.1587 | likely_benign | 0.1655 | benign | -1.078 | Destabilizing | 0.149 | N | 0.368 | neutral | None | None | None | None | N |
| V/W | 0.765 | likely_pathogenic | 0.7796 | pathogenic | -1.15 | Destabilizing | 0.935 | D | 0.616 | neutral | None | None | None | None | N |
| V/Y | 0.5632 | ambiguous | 0.5572 | ambiguous | -0.832 | Destabilizing | 0.555 | D | 0.505 | 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.