Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18972 | 57139;57140;57141 | chr2:178598796;178598795;178598794 | chr2:179463523;179463522;179463521 |
| N2AB | 17331 | 52216;52217;52218 | chr2:178598796;178598795;178598794 | chr2:179463523;179463522;179463521 |
| N2A | 16404 | 49435;49436;49437 | chr2:178598796;178598795;178598794 | chr2:179463523;179463522;179463521 |
| N2B | 9907 | 29944;29945;29946 | chr2:178598796;178598795;178598794 | chr2:179463523;179463522;179463521 |
| Novex-1 | 10032 | 30319;30320;30321 | chr2:178598796;178598795;178598794 | chr2:179463523;179463522;179463521 |
| Novex-2 | 10099 | 30520;30521;30522 | chr2:178598796;178598795;178598794 | chr2:179463523;179463522;179463521 |
| 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 | rs755417012  |
-0.397 | 1.0 | D | 0.709 | 0.652 | 0.509228182784 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs755417012 |
-0.397 | 1.0 | D | 0.709 | 0.652 | 0.509228182784 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77608E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8423 | likely_pathogenic | 0.8634 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.524718315 | None | None | N |
| G/C | 0.9717 | likely_pathogenic | 0.9759 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.544596996 | None | None | N |
| G/D | 0.9959 | likely_pathogenic | 0.9963 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.543583038 | None | None | N |
| G/E | 0.9963 | likely_pathogenic | 0.9966 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| G/F | 0.9971 | likely_pathogenic | 0.9971 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/H | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/I | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/K | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| G/L | 0.9933 | likely_pathogenic | 0.994 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/M | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/N | 0.9948 | likely_pathogenic | 0.9955 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/P | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/Q | 0.9966 | likely_pathogenic | 0.9969 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/R | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.525732273 | None | None | N |
| G/S | 0.5224 | ambiguous | 0.57 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.4525101 | None | None | N |
| G/T | 0.9703 | likely_pathogenic | 0.9721 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/V | 0.994 | likely_pathogenic | 0.9937 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.532733712 | None | None | N |
| G/W | 0.9964 | likely_pathogenic | 0.9967 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/Y | 0.997 | likely_pathogenic | 0.9973 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.865 | 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.