Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16364 | 49315;49316;49317 | chr2:178614307;178614306;178614305 | chr2:179479034;179479033;179479032 |
| N2AB | 14723 | 44392;44393;44394 | chr2:178614307;178614306;178614305 | chr2:179479034;179479033;179479032 |
| N2A | 13796 | 41611;41612;41613 | chr2:178614307;178614306;178614305 | chr2:179479034;179479033;179479032 |
| N2B | 7299 | 22120;22121;22122 | chr2:178614307;178614306;178614305 | chr2:179479034;179479033;179479032 |
| Novex-1 | 7424 | 22495;22496;22497 | chr2:178614307;178614306;178614305 | chr2:179479034;179479033;179479032 |
| Novex-2 | 7491 | 22696;22697;22698 | chr2:178614307;178614306;178614305 | chr2:179479034;179479033;179479032 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1159477728  |
0.02 | 1.0 | D | 0.764 | 0.529 | 0.59827724986 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1159477728 |
0.02 | 1.0 | D | 0.764 | 0.529 | 0.59827724986 | gnomAD-4.0.0 | 1.59324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78334E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1159477728 |
None | 1.0 | D | 0.77 | 0.439 | 0.455909487837 | gnomAD-4.0.0 | 1.59324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86157E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4424 | ambiguous | 0.3667 | ambiguous | -0.954 | Destabilizing | 0.999 | D | 0.484 | neutral | D | 0.560711363 | None | None | N |
| T/C | 0.7557 | likely_pathogenic | 0.7182 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| T/D | 0.56 | ambiguous | 0.5345 | ambiguous | -1.287 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| T/E | 0.8243 | likely_pathogenic | 0.7817 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| T/F | 0.8433 | likely_pathogenic | 0.811 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/G | 0.4908 | ambiguous | 0.4007 | ambiguous | -1.268 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/H | 0.6166 | likely_pathogenic | 0.5636 | ambiguous | -1.562 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/I | 0.8961 | likely_pathogenic | 0.8727 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.672452664 | None | None | N |
| T/K | 0.6637 | likely_pathogenic | 0.588 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| T/L | 0.5308 | ambiguous | 0.4714 | ambiguous | -0.185 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| T/M | 0.3531 | ambiguous | 0.3164 | benign | 0.131 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/N | 0.2004 | likely_benign | 0.1829 | benign | -1.201 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.563815444 | None | None | N |
| T/P | 0.8994 | likely_pathogenic | 0.8979 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.746886759 | None | None | N |
| T/Q | 0.623 | likely_pathogenic | 0.5535 | ambiguous | -1.305 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/R | 0.648 | likely_pathogenic | 0.5584 | ambiguous | -0.75 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/S | 0.1625 | likely_benign | 0.1393 | benign | -1.372 | Destabilizing | 0.999 | D | 0.513 | neutral | N | 0.481718707 | None | None | N |
| T/V | 0.7556 | likely_pathogenic | 0.7093 | pathogenic | -0.409 | Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | N |
| T/W | 0.9452 | likely_pathogenic | 0.9317 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/Y | 0.8036 | likely_pathogenic | 0.7647 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.755 | 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.