Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1908 | 5947;5948;5949 | chr2:178776142;178776141;178776140 | chr2:179640869;179640868;179640867 |
| N2AB | 1908 | 5947;5948;5949 | chr2:178776142;178776141;178776140 | chr2:179640869;179640868;179640867 |
| N2A | 1908 | 5947;5948;5949 | chr2:178776142;178776141;178776140 | chr2:179640869;179640868;179640867 |
| N2B | 1862 | 5809;5810;5811 | chr2:178776142;178776141;178776140 | chr2:179640869;179640868;179640867 |
| Novex-1 | 1862 | 5809;5810;5811 | chr2:178776142;178776141;178776140 | chr2:179640869;179640868;179640867 |
| Novex-2 | 1862 | 5809;5810;5811 | chr2:178776142;178776141;178776140 | chr2:179640869;179640868;179640867 |
| Novex-3 | 1908 | 5947;5948;5949 | chr2:178776142;178776141;178776140 | chr2:179640869;179640868;179640867 |
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/D | None | None | 1.0 | D | 0.843 | 0.847 | 0.567895071198 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.823 | 0.888 | 0.876930975126 | gnomAD-4.0.0 | 6.84069E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99302E-07 | 0 | 0 |
| G/S | rs964474432  |
None | 1.0 | D | 0.852 | 0.847 | 0.587357208644 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs964474432 |
None | 1.0 | D | 0.852 | 0.847 | 0.587357208644 | gnomAD-4.0.0 | 4.95651E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.9321E-06 | 0 | 1.60041E-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 | 0.849 | likely_pathogenic | 0.7898 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.598873249 | None | None | N |
| G/C | 0.9875 | likely_pathogenic | 0.9816 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.766723924 | None | None | N |
| G/D | 0.9933 | likely_pathogenic | 0.9911 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.622585127 | None | None | N |
| G/E | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/F | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/H | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/I | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/K | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/L | 0.9974 | likely_pathogenic | 0.9965 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/M | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/N | 0.9958 | likely_pathogenic | 0.9933 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/Q | 0.9974 | likely_pathogenic | 0.9963 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/R | 0.9962 | likely_pathogenic | 0.9952 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.801758637 | None | None | N |
| G/S | 0.8831 | likely_pathogenic | 0.842 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.76762932 | None | None | N |
| G/T | 0.9897 | likely_pathogenic | 0.985 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/V | 0.996 | likely_pathogenic | 0.9945 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.801758637 | None | None | N |
| G/W | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/Y | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.749 | 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.