Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32500 | 97723;97724;97725 | chr2:178541579;178541578;178541577 | chr2:179406306;179406305;179406304 |
| N2AB | 30859 | 92800;92801;92802 | chr2:178541579;178541578;178541577 | chr2:179406306;179406305;179406304 |
| N2A | 29932 | 90019;90020;90021 | chr2:178541579;178541578;178541577 | chr2:179406306;179406305;179406304 |
| N2B | 23435 | 70528;70529;70530 | chr2:178541579;178541578;178541577 | chr2:179406306;179406305;179406304 |
| Novex-1 | 23560 | 70903;70904;70905 | chr2:178541579;178541578;178541577 | chr2:179406306;179406305;179406304 |
| Novex-2 | 23627 | 71104;71105;71106 | chr2:178541579;178541578;178541577 | chr2:179406306;179406305;179406304 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.84 | 0.763 | 0.875150070457 | gnomAD-4.0.0 | 6.88078E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03524E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7274 | likely_pathogenic | 0.6979 | pathogenic | -0.949 | Destabilizing | 0.999 | D | 0.82 | deleterious | D | 0.633985825 | None | None | N |
| P/C | 0.9714 | likely_pathogenic | 0.9663 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/D | 0.9975 | likely_pathogenic | 0.9979 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/E | 0.9924 | likely_pathogenic | 0.9929 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/F | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/G | 0.979 | likely_pathogenic | 0.9793 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/H | 0.9905 | likely_pathogenic | 0.9906 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.66662996 | None | None | N |
| P/I | 0.9768 | likely_pathogenic | 0.9713 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/K | 0.9953 | likely_pathogenic | 0.9955 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/L | 0.9168 | likely_pathogenic | 0.9035 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.666428156 | None | None | N |
| P/M | 0.9899 | likely_pathogenic | 0.9883 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/N | 0.9966 | likely_pathogenic | 0.997 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/Q | 0.9855 | likely_pathogenic | 0.9851 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/R | 0.9766 | likely_pathogenic | 0.9775 | pathogenic | -0.149 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.650408795 | None | None | N |
| P/S | 0.9398 | likely_pathogenic | 0.9384 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.640920404 | None | None | N |
| P/T | 0.9226 | likely_pathogenic | 0.918 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.641122208 | None | None | N |
| P/V | 0.9443 | likely_pathogenic | 0.9286 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/W | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| P/Y | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.857 | deleterious | 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.