Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9380 | 28363;28364;28365 | chr2:178711098;178711097;178711096 | chr2:179575825;179575824;179575823 |
| N2AB | 9063 | 27412;27413;27414 | chr2:178711098;178711097;178711096 | chr2:179575825;179575824;179575823 |
| N2A | 8136 | 24631;24632;24633 | chr2:178711098;178711097;178711096 | chr2:179575825;179575824;179575823 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs370785476  |
-0.243 | 1.0 | None | 0.855 | 0.639 | None | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | I | None | 1.24069E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs370785476 |
-0.243 | 1.0 | None | 0.855 | 0.639 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 1.20715E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs370785476 |
-0.243 | 1.0 | None | 0.855 | 0.639 | None | gnomAD-4.0.0 | 6.09E-06 | None | None | None | None | I | None | 1.04884E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.7505 | likely_pathogenic | 0.7287 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| G/C | 0.9423 | likely_pathogenic | 0.9498 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/D | 0.9399 | likely_pathogenic | 0.9476 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/E | 0.9655 | likely_pathogenic | 0.9692 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/F | 0.9845 | likely_pathogenic | 0.9865 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/H | 0.9753 | likely_pathogenic | 0.9776 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/I | 0.9828 | likely_pathogenic | 0.9855 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/K | 0.9789 | likely_pathogenic | 0.9822 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/L | 0.9788 | likely_pathogenic | 0.9815 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/M | 0.9904 | likely_pathogenic | 0.9906 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.9546 | likely_pathogenic | 0.9533 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/Q | 0.9615 | likely_pathogenic | 0.9632 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/R | 0.9367 | likely_pathogenic | 0.9478 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/S | 0.6078 | likely_pathogenic | 0.6192 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/T | 0.922 | likely_pathogenic | 0.9215 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/V | 0.9664 | likely_pathogenic | 0.9704 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/W | 0.9797 | likely_pathogenic | 0.9848 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Y | 0.977 | likely_pathogenic | 0.9802 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
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.