Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26764 | 80515;80516;80517 | chr2:178565842;178565841;178565840 | chr2:179430569;179430568;179430567 |
| N2AB | 25123 | 75592;75593;75594 | chr2:178565842;178565841;178565840 | chr2:179430569;179430568;179430567 |
| N2A | 24196 | 72811;72812;72813 | chr2:178565842;178565841;178565840 | chr2:179430569;179430568;179430567 |
| N2B | 17699 | 53320;53321;53322 | chr2:178565842;178565841;178565840 | chr2:179430569;179430568;179430567 |
| Novex-1 | 17824 | 53695;53696;53697 | chr2:178565842;178565841;178565840 | chr2:179430569;179430568;179430567 |
| Novex-2 | 17891 | 53896;53897;53898 | chr2:178565842;178565841;178565840 | chr2:179430569;179430568;179430567 |
| 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/A | None | None | 0.999 | D | 0.764 | 0.804 | 0.532986417303 | gnomAD-4.0.0 | 6.84271E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| G/R | rs727505213  |
-0.2 | 1.0 | D | 0.923 | 0.817 | 0.847022759688 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65837E-04 |
| G/R | rs727505213 |
-0.2 | 1.0 | D | 0.923 | 0.817 | 0.847022759688 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | I | None | 0 | 5.90009E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| G/R | rs727505213 |
-0.2 | 1.0 | D | 0.923 | 0.817 | 0.847022759688 | gnomAD-4.0.0 | 1.61123E-05 | None | None | None | None | I | None | 0 | 1.83352E-04 | None | 0 | 0 | None | 0 | 0 | 9.32469E-06 | 0 | 6.40389E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8569 | likely_pathogenic | 0.8762 | pathogenic | -0.627 | Destabilizing | 0.999 | D | 0.764 | deleterious | D | 0.564765166 | None | None | I |
| G/C | 0.9441 | likely_pathogenic | 0.9494 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| G/D | 0.9783 | likely_pathogenic | 0.9822 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | I |
| G/E | 0.9872 | likely_pathogenic | 0.9889 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.565272145 | None | None | I |
| G/F | 0.9938 | likely_pathogenic | 0.9938 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
| G/H | 0.9891 | likely_pathogenic | 0.9907 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/I | 0.9921 | likely_pathogenic | 0.9914 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/K | 0.9923 | likely_pathogenic | 0.9933 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/L | 0.9868 | likely_pathogenic | 0.987 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/M | 0.9941 | likely_pathogenic | 0.994 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/N | 0.9812 | likely_pathogenic | 0.9854 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/P | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/Q | 0.9805 | likely_pathogenic | 0.9842 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | I |
| G/R | 0.9697 | likely_pathogenic | 0.9744 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.54716789 | None | None | I |
| G/S | 0.7633 | likely_pathogenic | 0.7921 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/T | 0.9619 | likely_pathogenic | 0.9641 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/V | 0.9843 | likely_pathogenic | 0.9836 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.546660911 | None | None | I |
| G/W | 0.9879 | likely_pathogenic | 0.9869 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/Y | 0.9908 | likely_pathogenic | 0.9903 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.9 | 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.