Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16338 | 49237;49238;49239 | chr2:178614502;178614501;178614500 | chr2:179479229;179479228;179479227 |
| N2AB | 14697 | 44314;44315;44316 | chr2:178614502;178614501;178614500 | chr2:179479229;179479228;179479227 |
| N2A | 13770 | 41533;41534;41535 | chr2:178614502;178614501;178614500 | chr2:179479229;179479228;179479227 |
| N2B | 7273 | 22042;22043;22044 | chr2:178614502;178614501;178614500 | chr2:179479229;179479228;179479227 |
| Novex-1 | 7398 | 22417;22418;22419 | chr2:178614502;178614501;178614500 | chr2:179479229;179479228;179479227 |
| Novex-2 | 7465 | 22618;22619;22620 | chr2:178614502;178614501;178614500 | chr2:179479229;179479228;179479227 |
| 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/S | rs752053096  |
None | 1.0 | D | 0.833 | 0.686 | 0.576277098964 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs752053096 |
None | 1.0 | D | 0.833 | 0.686 | 0.576277098964 | gnomAD-4.0.0 | 6.58467E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47223E-05 | 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 | 0.9741 | likely_pathogenic | 0.9485 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.756375091 | None | None | I |
| G/C | 0.9867 | likely_pathogenic | 0.9643 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.802339541 | None | None | I |
| G/D | 0.9946 | likely_pathogenic | 0.9869 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.74078009 | None | None | I |
| G/E | 0.9967 | likely_pathogenic | 0.9924 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| G/F | 0.9988 | likely_pathogenic | 0.9975 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/H | 0.9978 | likely_pathogenic | 0.9944 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/I | 0.999 | likely_pathogenic | 0.9976 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/K | 0.9973 | likely_pathogenic | 0.9929 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/L | 0.9979 | likely_pathogenic | 0.9952 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/M | 0.9991 | likely_pathogenic | 0.9977 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/N | 0.9943 | likely_pathogenic | 0.9869 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/Q | 0.994 | likely_pathogenic | 0.9855 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | I |
| G/R | 0.9912 | likely_pathogenic | 0.9787 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.838358145 | None | None | I |
| G/S | 0.9447 | likely_pathogenic | 0.8894 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.72328867 | None | None | I |
| G/T | 0.995 | likely_pathogenic | 0.9881 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/V | 0.9977 | likely_pathogenic | 0.9945 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.767820595 | None | None | I |
| G/W | 0.998 | likely_pathogenic | 0.9952 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/Y | 0.9985 | likely_pathogenic | 0.9965 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.885 | 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.