Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33646 | 101161;101162;101163 | chr2:178535679;178535678;178535677 | chr2:179400406;179400405;179400404 |
| N2AB | 32005 | 96238;96239;96240 | chr2:178535679;178535678;178535677 | chr2:179400406;179400405;179400404 |
| N2A | 31078 | 93457;93458;93459 | chr2:178535679;178535678;178535677 | chr2:179400406;179400405;179400404 |
| N2B | 24581 | 73966;73967;73968 | chr2:178535679;178535678;178535677 | chr2:179400406;179400405;179400404 |
| Novex-1 | 24706 | 74341;74342;74343 | chr2:178535679;178535678;178535677 | chr2:179400406;179400405;179400404 |
| Novex-2 | 24773 | 74542;74543;74544 | chr2:178535679;178535678;178535677 | chr2:179400406;179400405;179400404 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs773257113  |
0.191 | 0.809 | N | 0.587 | 0.165 | 0.518970300747 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63388E-04 | None | 0 | 0 | 0 |
| V/I | rs773257113 |
0.191 | 0.809 | N | 0.587 | 0.165 | 0.518970300747 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 4.14079E-04 | 0 |
| V/I | rs773257113 |
0.191 | 0.809 | N | 0.587 | 0.165 | 0.518970300747 | gnomAD-4.0.0 | 1.42529E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64366E-04 | 0 | 2.19568E-04 | 3.20246E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8245 | likely_pathogenic | 0.6 | pathogenic | -0.877 | Destabilizing | 0.965 | D | 0.622 | neutral | N | 0.487401825 | None | None | N |
| V/C | 0.9667 | likely_pathogenic | 0.9262 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/D | 0.974 | likely_pathogenic | 0.9142 | pathogenic | -0.158 | Destabilizing | 0.999 | D | 0.799 | deleterious | N | 0.464642396 | None | None | N |
| V/E | 0.9354 | likely_pathogenic | 0.8 | pathogenic | -0.131 | Destabilizing | 0.996 | D | 0.768 | deleterious | None | None | None | None | N |
| V/F | 0.7891 | likely_pathogenic | 0.5599 | ambiguous | -0.515 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.529115162 | None | None | N |
| V/G | 0.8909 | likely_pathogenic | 0.7555 | pathogenic | -1.191 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.492194356 | None | None | N |
| V/H | 0.9751 | likely_pathogenic | 0.9244 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| V/I | 0.145 | likely_benign | 0.1069 | benign | -0.127 | Destabilizing | 0.809 | D | 0.587 | neutral | N | 0.46598919 | None | None | N |
| V/K | 0.9402 | likely_pathogenic | 0.8305 | pathogenic | -0.605 | Destabilizing | 0.998 | D | 0.78 | deleterious | None | None | None | None | N |
| V/L | 0.7557 | likely_pathogenic | 0.5287 | ambiguous | -0.127 | Destabilizing | 0.809 | D | 0.623 | neutral | N | 0.471472368 | None | None | N |
| V/M | 0.6771 | likely_pathogenic | 0.4042 | ambiguous | -0.241 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| V/N | 0.8967 | likely_pathogenic | 0.7438 | pathogenic | -0.557 | Destabilizing | 0.988 | D | 0.803 | deleterious | None | None | None | None | N |
| V/P | 0.9841 | likely_pathogenic | 0.9554 | pathogenic | -0.341 | Destabilizing | 0.996 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Q | 0.9052 | likely_pathogenic | 0.7507 | pathogenic | -0.597 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| V/R | 0.915 | likely_pathogenic | 0.7983 | pathogenic | -0.277 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| V/S | 0.8265 | likely_pathogenic | 0.6289 | pathogenic | -1.144 | Destabilizing | 0.978 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/T | 0.6327 | likely_pathogenic | 0.402 | ambiguous | -0.988 | Destabilizing | 0.166 | N | 0.339 | neutral | None | None | None | None | N |
| V/W | 0.9951 | likely_pathogenic | 0.9856 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/Y | 0.9742 | likely_pathogenic | 0.924 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.761 | 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.