Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7436 | 22531;22532;22533 | chr2:178722481;178722480;178722479 | chr2:179587208;179587207;179587206 |
| N2AB | 7119 | 21580;21581;21582 | chr2:178722481;178722480;178722479 | chr2:179587208;179587207;179587206 |
| N2A | 6192 | 18799;18800;18801 | chr2:178722481;178722480;178722479 | chr2:179587208;179587207;179587206 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs760391619  |
-1.539 | 0.323 | N | 0.34 | 0.229 | 0.468168183122 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30804E-04 | None | 0 | 0 | 0 |
| V/A | rs760391619 |
-1.539 | 0.323 | N | 0.34 | 0.229 | 0.468168183122 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| V/A | rs760391619 |
-1.539 | 0.323 | N | 0.34 | 0.229 | 0.468168183122 | gnomAD-4.0.0 | 6.19826E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09832E-04 | 0 |
| V/D | rs760391619 |
-1.459 | 0.998 | D | 0.821 | 0.773 | 0.918728754926 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| V/D | rs760391619 |
-1.459 | 0.998 | D | 0.821 | 0.773 | 0.918728754926 | 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/D | rs760391619 |
-1.459 | 0.998 | D | 0.821 | 0.773 | 0.918728754926 | gnomAD-4.0.0 | 3.71896E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.0867E-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 | 0.2719 | likely_benign | 0.3135 | benign | -1.608 | Destabilizing | 0.323 | N | 0.34 | neutral | N | 0.484679312 | None | None | N |
| V/C | 0.8902 | likely_pathogenic | 0.8851 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/D | 0.9459 | likely_pathogenic | 0.9463 | pathogenic | -1.426 | Destabilizing | 0.998 | D | 0.821 | deleterious | D | 0.626413728 | None | None | N |
| V/E | 0.8864 | likely_pathogenic | 0.882 | pathogenic | -1.341 | Destabilizing | 0.993 | D | 0.783 | deleterious | None | None | None | None | N |
| V/F | 0.4014 | ambiguous | 0.369 | ambiguous | -1.044 | Destabilizing | 0.996 | D | 0.771 | deleterious | D | 0.560862934 | None | None | N |
| V/G | 0.5849 | likely_pathogenic | 0.62 | pathogenic | -2.028 | Highly Destabilizing | 0.998 | D | 0.789 | deleterious | D | 0.564516847 | None | None | N |
| V/H | 0.9619 | likely_pathogenic | 0.9599 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/I | 0.0897 | likely_benign | 0.0852 | benign | -0.517 | Destabilizing | 0.017 | N | 0.221 | neutral | D | 0.533109299 | None | None | N |
| V/K | 0.9356 | likely_pathogenic | 0.9296 | pathogenic | -1.358 | Destabilizing | 0.997 | D | 0.781 | deleterious | None | None | None | None | N |
| V/L | 0.2846 | likely_benign | 0.2645 | benign | -0.517 | Destabilizing | 0.017 | N | 0.293 | neutral | D | 0.536089567 | None | None | N |
| V/M | 0.2436 | likely_benign | 0.2382 | benign | -0.498 | Destabilizing | 0.995 | D | 0.608 | neutral | None | None | None | None | N |
| V/N | 0.8832 | likely_pathogenic | 0.8782 | pathogenic | -1.313 | Destabilizing | 0.992 | D | 0.815 | deleterious | None | None | None | None | N |
| V/P | 0.9816 | likely_pathogenic | 0.9791 | pathogenic | -0.846 | Destabilizing | 0.977 | D | 0.789 | deleterious | None | None | None | None | N |
| V/Q | 0.8781 | likely_pathogenic | 0.8753 | pathogenic | -1.343 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| V/R | 0.907 | likely_pathogenic | 0.9015 | pathogenic | -0.988 | Destabilizing | 0.998 | D | 0.82 | deleterious | None | None | None | None | N |
| V/S | 0.6267 | likely_pathogenic | 0.6655 | pathogenic | -1.948 | Destabilizing | 0.988 | D | 0.763 | deleterious | None | None | None | None | N |
| V/T | 0.4473 | ambiguous | 0.4629 | ambiguous | -1.729 | Destabilizing | 0.95 | D | 0.622 | neutral | None | None | None | None | N |
| V/W | 0.9781 | likely_pathogenic | 0.9739 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| V/Y | 0.9034 | likely_pathogenic | 0.8919 | pathogenic | -0.998 | Destabilizing | 0.998 | D | 0.764 | 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.