Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20787 | 62584;62585;62586 | chr2:178589366;178589365;178589364 | chr2:179454093;179454092;179454091 |
| N2AB | 19146 | 57661;57662;57663 | chr2:178589366;178589365;178589364 | chr2:179454093;179454092;179454091 |
| N2A | 18219 | 54880;54881;54882 | chr2:178589366;178589365;178589364 | chr2:179454093;179454092;179454091 |
| N2B | 11722 | 35389;35390;35391 | chr2:178589366;178589365;178589364 | chr2:179454093;179454092;179454091 |
| Novex-1 | 11847 | 35764;35765;35766 | chr2:178589366;178589365;178589364 | chr2:179454093;179454092;179454091 |
| Novex-2 | 11914 | 35965;35966;35967 | chr2:178589366;178589365;178589364 | chr2:179454093;179454092;179454091 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | None | None | 0.998 | N | 0.819 | 0.48 | 0.782853610656 | gnomAD-4.0.0 | 6.84334E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99556E-07 | 0 | 0 |
| I/T | rs762932429  |
-2.048 | 0.961 | N | 0.725 | 0.331 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| I/T | rs762932429 |
-2.048 | 0.961 | N | 0.725 | 0.331 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/T | rs762932429 |
-2.048 | 0.961 | N | 0.725 | 0.331 | None | gnomAD-4.0.0 | 1.36365E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61066E-05 | 0 | 4.80461E-05 |
| I/V | None | None | 0.122 | N | 0.213 | 0.079 | 0.257292322809 | gnomAD-4.0.0 | 1.59199E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77932E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.905 | likely_pathogenic | 0.9221 | pathogenic | -2.628 | Highly Destabilizing | 0.931 | D | 0.656 | neutral | None | None | None | None | N |
| I/C | 0.9372 | likely_pathogenic | 0.9562 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| I/D | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -2.933 | Highly Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| I/E | 0.9968 | likely_pathogenic | 0.9977 | pathogenic | -2.646 | Highly Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| I/F | 0.47 | ambiguous | 0.5132 | ambiguous | -1.568 | Destabilizing | 0.994 | D | 0.718 | prob.delet. | N | 0.512467188 | None | None | N |
| I/G | 0.9907 | likely_pathogenic | 0.993 | pathogenic | -3.224 | Highly Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| I/H | 0.9949 | likely_pathogenic | 0.9966 | pathogenic | -2.632 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/K | 0.9951 | likely_pathogenic | 0.9966 | pathogenic | -2.109 | Highly Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| I/L | 0.2197 | likely_benign | 0.2481 | benign | -0.871 | Destabilizing | 0.689 | D | 0.401 | neutral | N | 0.452242662 | None | None | N |
| I/M | 0.3355 | likely_benign | 0.4002 | ambiguous | -0.842 | Destabilizing | 0.994 | D | 0.69 | prob.neutral | N | 0.476633979 | None | None | N |
| I/N | 0.9886 | likely_pathogenic | 0.9925 | pathogenic | -2.631 | Highly Destabilizing | 0.998 | D | 0.819 | deleterious | N | 0.509234865 | None | None | N |
| I/P | 0.9908 | likely_pathogenic | 0.9931 | pathogenic | -1.441 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| I/Q | 0.9932 | likely_pathogenic | 0.9954 | pathogenic | -2.378 | Highly Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| I/R | 0.9913 | likely_pathogenic | 0.9937 | pathogenic | -1.978 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| I/S | 0.9764 | likely_pathogenic | 0.9824 | pathogenic | -3.345 | Highly Destabilizing | 0.994 | D | 0.788 | deleterious | N | 0.49087712 | None | None | N |
| I/T | 0.9645 | likely_pathogenic | 0.9746 | pathogenic | -2.888 | Highly Destabilizing | 0.961 | D | 0.725 | prob.delet. | N | 0.470620045 | None | None | N |
| I/V | 0.0954 | likely_benign | 0.1006 | benign | -1.441 | Destabilizing | 0.122 | N | 0.213 | neutral | N | 0.460493999 | None | None | N |
| I/W | 0.9885 | likely_pathogenic | 0.9917 | pathogenic | -1.918 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| I/Y | 0.9582 | likely_pathogenic | 0.9693 | pathogenic | -1.637 | Destabilizing | 0.999 | D | 0.809 | 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.