Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28817 | 86674;86675;86676 | chr2:178559683;178559682;178559681 | chr2:179424410;179424409;179424408 |
| N2AB | 27176 | 81751;81752;81753 | chr2:178559683;178559682;178559681 | chr2:179424410;179424409;179424408 |
| N2A | 26249 | 78970;78971;78972 | chr2:178559683;178559682;178559681 | chr2:179424410;179424409;179424408 |
| N2B | 19752 | 59479;59480;59481 | chr2:178559683;178559682;178559681 | chr2:179424410;179424409;179424408 |
| Novex-1 | 19877 | 59854;59855;59856 | chr2:178559683;178559682;178559681 | chr2:179424410;179424409;179424408 |
| Novex-2 | 19944 | 60055;60056;60057 | chr2:178559683;178559682;178559681 | chr2:179424410;179424409;179424408 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs770715791  |
0.013 | 0.997 | N | 0.569 | 0.29 | 0.317958651998 | gnomAD-2.1.1 | 8.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.73E-05 | None | 0 | 0 | 0 |
| R/K | rs770715791 |
0.013 | 0.997 | N | 0.569 | 0.29 | 0.317958651998 | gnomAD-4.0.0 | 4.79886E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.33877E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9724 | likely_pathogenic | 0.959 | pathogenic | -0.045 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| R/C | 0.6868 | likely_pathogenic | 0.625 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| R/D | 0.9947 | likely_pathogenic | 0.9926 | pathogenic | -0.127 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| R/E | 0.9485 | likely_pathogenic | 0.9319 | pathogenic | -0.069 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| R/F | 0.9796 | likely_pathogenic | 0.9703 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/G | 0.9506 | likely_pathogenic | 0.9327 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.479596494 | None | None | N |
| R/H | 0.4866 | ambiguous | 0.436 | ambiguous | -0.75 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| R/I | 0.9 | likely_pathogenic | 0.8581 | pathogenic | 0.437 | Stabilizing | 1.0 | D | 0.745 | deleterious | N | 0.492154114 | None | None | N |
| R/K | 0.4038 | ambiguous | 0.3479 | ambiguous | -0.08 | Destabilizing | 0.997 | D | 0.569 | neutral | N | 0.453944141 | None | None | N |
| R/L | 0.897 | likely_pathogenic | 0.8467 | pathogenic | 0.437 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| R/M | 0.9444 | likely_pathogenic | 0.9158 | pathogenic | 0.103 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| R/N | 0.9854 | likely_pathogenic | 0.9805 | pathogenic | 0.239 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| R/P | 0.9778 | likely_pathogenic | 0.9662 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| R/Q | 0.4677 | ambiguous | 0.4031 | ambiguous | 0.095 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| R/S | 0.984 | likely_pathogenic | 0.9776 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.47092276 | None | None | N |
| R/T | 0.9658 | likely_pathogenic | 0.9482 | pathogenic | 0.06 | Stabilizing | 1.0 | D | 0.664 | neutral | N | 0.487545758 | None | None | N |
| R/V | 0.9404 | likely_pathogenic | 0.9116 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| R/W | 0.7295 | likely_pathogenic | 0.661 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/Y | 0.9273 | likely_pathogenic | 0.9002 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | 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.