Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18496 | 55711;55712;55713 | chr2:178601511;178601510;178601509 | chr2:179466238;179466237;179466236 |
| N2AB | 16855 | 50788;50789;50790 | chr2:178601511;178601510;178601509 | chr2:179466238;179466237;179466236 |
| N2A | 15928 | 48007;48008;48009 | chr2:178601511;178601510;178601509 | chr2:179466238;179466237;179466236 |
| N2B | 9431 | 28516;28517;28518 | chr2:178601511;178601510;178601509 | chr2:179466238;179466237;179466236 |
| Novex-1 | 9556 | 28891;28892;28893 | chr2:178601511;178601510;178601509 | chr2:179466238;179466237;179466236 |
| Novex-2 | 9623 | 29092;29093;29094 | chr2:178601511;178601510;178601509 | chr2:179466238;179466237;179466236 |
| 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/Y | rs1576287548  |
None | 0.975 | N | 0.807 | 0.319 | 0.64191002643 | gnomAD-4.0.0 | 1.36914E-06 | None | None | None | None | N | None | 2.99276E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99854E-07 | 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 | 0.6031 | likely_pathogenic | 0.6191 | pathogenic | -1.498 | Destabilizing | 0.003 | N | 0.245 | neutral | None | None | None | None | N |
| C/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.367 | Destabilizing | 0.944 | D | 0.811 | deleterious | None | None | None | None | N |
| C/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.151 | Destabilizing | 0.704 | D | 0.789 | deleterious | None | None | None | None | N |
| C/F | 0.9341 | likely_pathogenic | 0.9533 | pathogenic | -1.119 | Destabilizing | 0.863 | D | 0.812 | deleterious | N | 0.509317814 | None | None | N |
| C/G | 0.7821 | likely_pathogenic | 0.8088 | pathogenic | -1.84 | Destabilizing | 0.473 | N | 0.735 | prob.delet. | N | 0.480377551 | None | None | N |
| C/H | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -2.247 | Highly Destabilizing | 0.995 | D | 0.79 | deleterious | None | None | None | None | N |
| C/I | 0.7782 | likely_pathogenic | 0.8121 | pathogenic | -0.592 | Destabilizing | 0.329 | N | 0.654 | neutral | None | None | None | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.876 | Destabilizing | 0.704 | D | 0.767 | deleterious | None | None | None | None | N |
| C/L | 0.7663 | likely_pathogenic | 0.8148 | pathogenic | -0.592 | Destabilizing | 0.176 | N | 0.559 | neutral | None | None | None | None | N |
| C/M | 0.8902 | likely_pathogenic | 0.9165 | pathogenic | -0.136 | Destabilizing | 0.085 | N | 0.544 | neutral | None | None | None | None | N |
| C/N | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -1.413 | Destabilizing | 0.944 | D | 0.815 | deleterious | None | None | None | None | N |
| C/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.87 | Destabilizing | 0.944 | D | 0.819 | deleterious | None | None | None | None | N |
| C/Q | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -1.015 | Destabilizing | 0.944 | D | 0.815 | deleterious | None | None | None | None | N |
| C/R | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -1.312 | Destabilizing | 0.927 | D | 0.819 | deleterious | N | 0.480377551 | None | None | N |
| C/S | 0.8675 | likely_pathogenic | 0.877 | pathogenic | -1.694 | Destabilizing | 0.27 | N | 0.69 | prob.neutral | N | 0.462019807 | None | None | N |
| C/T | 0.9014 | likely_pathogenic | 0.9095 | pathogenic | -1.287 | Destabilizing | 0.495 | N | 0.691 | prob.neutral | None | None | None | None | N |
| C/V | 0.5431 | ambiguous | 0.5625 | ambiguous | -0.87 | Destabilizing | 0.013 | N | 0.527 | neutral | None | None | None | None | N |
| C/W | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -1.497 | Destabilizing | 0.993 | D | 0.761 | deleterious | N | 0.491733857 | None | None | N |
| C/Y | 0.9913 | likely_pathogenic | 0.9935 | pathogenic | -1.232 | Destabilizing | 0.975 | D | 0.807 | deleterious | N | 0.491480367 | 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.