Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22338 | 67237;67238;67239 | chr2:178580367;178580366;178580365 | chr2:179445094;179445093;179445092 |
| N2AB | 20697 | 62314;62315;62316 | chr2:178580367;178580366;178580365 | chr2:179445094;179445093;179445092 |
| N2A | 19770 | 59533;59534;59535 | chr2:178580367;178580366;178580365 | chr2:179445094;179445093;179445092 |
| N2B | 13273 | 40042;40043;40044 | chr2:178580367;178580366;178580365 | chr2:179445094;179445093;179445092 |
| Novex-1 | 13398 | 40417;40418;40419 | chr2:178580367;178580366;178580365 | chr2:179445094;179445093;179445092 |
| Novex-2 | 13465 | 40618;40619;40620 | chr2:178580367;178580366;178580365 | chr2:179445094;179445093;179445092 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs761241302  |
-0.196 | 1.0 | D | 0.729 | 0.543 | 0.203808441222 | gnomAD-2.1.1 | 5.01E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.09783E-04 | 0 |
| N/K | rs761241302 |
-0.196 | 1.0 | D | 0.729 | 0.543 | 0.203808441222 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.17696E-04 | 0 | 0 |
| N/K | rs761241302 |
-0.196 | 1.0 | D | 0.729 | 0.543 | 0.203808441222 | gnomAD-4.0.0 | 8.18319E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10223E-04 | 0 | 3.20441E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.995 | likely_pathogenic | 0.9942 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| N/C | 0.9686 | likely_pathogenic | 0.9683 | pathogenic | 0.177 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| N/D | 0.9831 | likely_pathogenic | 0.9819 | pathogenic | -1.114 | Destabilizing | 0.999 | D | 0.622 | neutral | D | 0.532673443 | None | None | I |
| N/E | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -1.097 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | I |
| N/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| N/G | 0.9848 | likely_pathogenic | 0.9827 | pathogenic | -0.736 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | I |
| N/H | 0.9845 | likely_pathogenic | 0.9835 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.522584585 | None | None | I |
| N/I | 0.9958 | likely_pathogenic | 0.9954 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.496340029 | None | None | I |
| N/K | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.533433912 | None | None | I |
| N/L | 0.9931 | likely_pathogenic | 0.9923 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| N/M | 0.9956 | likely_pathogenic | 0.995 | pathogenic | 0.739 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| N/P | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| N/Q | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| N/R | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| N/S | 0.8259 | likely_pathogenic | 0.7994 | pathogenic | -0.541 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.474055037 | None | None | I |
| N/T | 0.9599 | likely_pathogenic | 0.9542 | pathogenic | -0.383 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | D | 0.532926933 | None | None | I |
| N/V | 0.9943 | likely_pathogenic | 0.9936 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| N/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| N/Y | 0.9933 | likely_pathogenic | 0.9934 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.533940891 | 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.