Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8820 | 26683;26684;26685 | chr2:178714316;178714315;178714314 | chr2:179579043;179579042;179579041 |
| N2AB | 8503 | 25732;25733;25734 | chr2:178714316;178714315;178714314 | chr2:179579043;179579042;179579041 |
| N2A | 7576 | 22951;22952;22953 | chr2:178714316;178714315;178714314 | chr2:179579043;179579042;179579041 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs1193461740  |
None | 0.999 | N | 0.861 | 0.555 | 0.817221544248 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/G | rs1193461740 |
None | 0.999 | N | 0.861 | 0.555 | 0.817221544248 | gnomAD-4.0.0 | 6.57592E-06 | None | None | None | None | N | None | 2.41441E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs778500616 |
-1.522 | 1.0 | N | 0.915 | 0.439 | 0.746340679362 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/Y | rs778500616 |
-1.522 | 1.0 | N | 0.915 | 0.439 | 0.746340679362 | gnomAD-4.0.0 | 1.59325E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86364E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.3437 | ambiguous | 0.3582 | ambiguous | -2.007 | Highly Destabilizing | 0.997 | D | 0.605 | neutral | None | None | None | None | N |
| C/D | 0.6072 | likely_pathogenic | 0.6446 | pathogenic | -0.802 | Destabilizing | 0.999 | D | 0.908 | deleterious | None | None | None | None | N |
| C/E | 0.8196 | likely_pathogenic | 0.8335 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| C/F | 0.3288 | likely_benign | 0.3607 | ambiguous | -1.202 | Destabilizing | 1.0 | D | 0.915 | deleterious | N | 0.498467894 | None | None | N |
| C/G | 0.1471 | likely_benign | 0.1557 | benign | -2.362 | Highly Destabilizing | 0.999 | D | 0.861 | deleterious | N | 0.498467894 | None | None | N |
| C/H | 0.5726 | likely_pathogenic | 0.6145 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| C/I | 0.5163 | ambiguous | 0.5651 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| C/K | 0.8552 | likely_pathogenic | 0.8802 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| C/L | 0.526 | ambiguous | 0.5556 | ambiguous | -1.051 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| C/M | 0.6158 | likely_pathogenic | 0.6188 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| C/N | 0.2969 | likely_benign | 0.3047 | benign | -1.44 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| C/P | 0.9862 | likely_pathogenic | 0.9878 | pathogenic | -1.347 | Destabilizing | 0.999 | D | 0.918 | deleterious | None | None | None | None | N |
| C/Q | 0.664 | likely_pathogenic | 0.6954 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| C/R | 0.5912 | likely_pathogenic | 0.6559 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.918 | deleterious | N | 0.505442879 | None | None | N |
| C/S | 0.1709 | likely_benign | 0.1684 | benign | -1.96 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.485764243 | None | None | N |
| C/T | 0.3242 | likely_benign | 0.3111 | benign | -1.582 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| C/V | 0.4443 | ambiguous | 0.473 | ambiguous | -1.347 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/W | 0.6438 | likely_pathogenic | 0.71 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.521940973 | None | None | N |
| C/Y | 0.3364 | likely_benign | 0.3696 | ambiguous | -1.264 | Destabilizing | 1.0 | D | 0.915 | deleterious | N | 0.510077689 | 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.