Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16267 | 49024;49025;49026 | chr2:178614715;178614714;178614713 | chr2:179479442;179479441;179479440 |
| N2AB | 14626 | 44101;44102;44103 | chr2:178614715;178614714;178614713 | chr2:179479442;179479441;179479440 |
| N2A | 13699 | 41320;41321;41322 | chr2:178614715;178614714;178614713 | chr2:179479442;179479441;179479440 |
| N2B | 7202 | 21829;21830;21831 | chr2:178614715;178614714;178614713 | chr2:179479442;179479441;179479440 |
| Novex-1 | 7327 | 22204;22205;22206 | chr2:178614715;178614714;178614713 | chr2:179479442;179479441;179479440 |
| Novex-2 | 7394 | 22405;22406;22407 | chr2:178614715;178614714;178614713 | chr2:179479442;179479441;179479440 |
| 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/D | rs917290755  |
-0.517 | 1.0 | N | 0.792 | 0.457 | 0.234412748748 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| G/D | rs917290755 |
-0.517 | 1.0 | N | 0.792 | 0.457 | 0.234412748748 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs917290755 |
-0.517 | 1.0 | N | 0.792 | 0.457 | 0.234412748748 | gnomAD-4.0.0 | 6.58432E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47228E-05 | 0 | 0 |
| G/V | None | None | 1.0 | N | 0.815 | 0.484 | 0.43965937752 | gnomAD-4.0.0 | 1.59677E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86609E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7345 | likely_pathogenic | 0.8082 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.431808006 | None | None | N |
| G/C | 0.9072 | likely_pathogenic | 0.9292 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.532470347 | None | None | N |
| G/D | 0.9533 | likely_pathogenic | 0.9741 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.436026622 | None | None | N |
| G/E | 0.9491 | likely_pathogenic | 0.9702 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/F | 0.9897 | likely_pathogenic | 0.9916 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/H | 0.9695 | likely_pathogenic | 0.9837 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/I | 0.9794 | likely_pathogenic | 0.9844 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/K | 0.9645 | likely_pathogenic | 0.9816 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/L | 0.9786 | likely_pathogenic | 0.9846 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/M | 0.982 | likely_pathogenic | 0.9875 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| G/N | 0.9173 | likely_pathogenic | 0.9555 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/P | 0.9966 | likely_pathogenic | 0.9978 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/Q | 0.9427 | likely_pathogenic | 0.9666 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/R | 0.9404 | likely_pathogenic | 0.9652 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.447873279 | None | None | N |
| G/S | 0.6621 | likely_pathogenic | 0.765 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.442982089 | None | None | N |
| G/T | 0.8888 | likely_pathogenic | 0.9278 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/V | 0.9501 | likely_pathogenic | 0.9609 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.46592636 | None | None | N |
| G/W | 0.9856 | likely_pathogenic | 0.9883 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Y | 0.9809 | likely_pathogenic | 0.9856 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.783 | 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.