Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13754 | 41485;41486;41487 | chr2:178636467;178636466;178636465 | chr2:179501194;179501193;179501192 |
| N2AB | 12113 | 36562;36563;36564 | chr2:178636467;178636466;178636465 | chr2:179501194;179501193;179501192 |
| N2A | 11186 | 33781;33782;33783 | chr2:178636467;178636466;178636465 | chr2:179501194;179501193;179501192 |
| N2B | 4689 | 14290;14291;14292 | chr2:178636467;178636466;178636465 | chr2:179501194;179501193;179501192 |
| Novex-1 | 4814 | 14665;14666;14667 | chr2:178636467;178636466;178636465 | chr2:179501194;179501193;179501192 |
| Novex-2 | 4881 | 14866;14867;14868 | chr2:178636467;178636466;178636465 | chr2:179501194;179501193;179501192 |
| 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/D | None | None | 1.0 | D | 0.804 | 0.78 | 0.569599524359 | gnomAD-4.0.0 | 1.59236E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.78118E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.771 | 0.831 | 0.781462550472 | gnomAD-4.0.0 | 6.84415E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99637E-07 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.84 | 0.837 | 0.547766246091 | gnomAD-4.0.0 | 6.84415E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65739E-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 | 0.7361 | likely_pathogenic | 0.7971 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.64658108 | None | None | I |
| G/C | 0.9873 | likely_pathogenic | 0.9936 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.814451346 | None | None | I |
| G/D | 0.9888 | likely_pathogenic | 0.9936 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.699587396 | None | None | I |
| G/E | 0.9946 | likely_pathogenic | 0.9974 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/F | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/H | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| G/I | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/K | 0.9981 | likely_pathogenic | 0.999 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/L | 0.9975 | likely_pathogenic | 0.9983 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/M | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | 0.046 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| G/N | 0.9955 | likely_pathogenic | 0.9973 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/Q | 0.9955 | likely_pathogenic | 0.9977 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/R | 0.9932 | likely_pathogenic | 0.9967 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.779965259 | None | None | I |
| G/S | 0.8579 | likely_pathogenic | 0.9114 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.743833054 | None | None | I |
| G/T | 0.9896 | likely_pathogenic | 0.9938 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/V | 0.9951 | likely_pathogenic | 0.9973 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.814451346 | None | None | I |
| G/W | 0.9987 | likely_pathogenic | 0.9994 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9991 | likely_pathogenic | 0.9996 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | 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.