Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34216 | 102871;102872;102873 | chr2:178533969;178533968;178533967 | chr2:179398696;179398695;179398694 |
| N2AB | 32575 | 97948;97949;97950 | chr2:178533969;178533968;178533967 | chr2:179398696;179398695;179398694 |
| N2A | 31648 | 95167;95168;95169 | chr2:178533969;178533968;178533967 | chr2:179398696;179398695;179398694 |
| N2B | 25151 | 75676;75677;75678 | chr2:178533969;178533968;178533967 | chr2:179398696;179398695;179398694 |
| Novex-1 | 25276 | 76051;76052;76053 | chr2:178533969;178533968;178533967 | chr2:179398696;179398695;179398694 |
| Novex-2 | 25343 | 76252;76253;76254 | chr2:178533969;178533968;178533967 | chr2:179398696;179398695;179398694 |
| 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 | 0.851 | 0.803 | 0.52133269049 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79883E-06 | 0 | 0 |
| G/S | rs1332571612  |
-0.352 | 1.0 | D | 0.796 | 0.75 | 0.458374381611 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1332571612 |
-0.352 | 1.0 | D | 0.796 | 0.75 | 0.458374381611 | gnomAD-4.0.0 | 4.77328E-06 | None | None | None | None | N | None | 0 | 6.86091E-05 | None | 0 | 0 | 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 | 0.7835 | likely_pathogenic | 0.7028 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.576691209 | None | None | N |
| G/C | 0.9312 | likely_pathogenic | 0.9151 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.59415356 | None | None | N |
| G/D | 0.9363 | likely_pathogenic | 0.9287 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.5762876 | None | None | N |
| G/E | 0.9379 | likely_pathogenic | 0.9192 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/F | 0.9879 | likely_pathogenic | 0.9821 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/H | 0.9751 | likely_pathogenic | 0.9628 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/I | 0.9818 | likely_pathogenic | 0.9688 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/K | 0.9627 | likely_pathogenic | 0.9464 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/L | 0.9769 | likely_pathogenic | 0.9681 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/M | 0.9848 | likely_pathogenic | 0.9778 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/N | 0.9553 | likely_pathogenic | 0.9442 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/P | 0.999 | likely_pathogenic | 0.9985 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/Q | 0.937 | likely_pathogenic | 0.9109 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/R | 0.8934 | likely_pathogenic | 0.8483 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.576893013 | None | None | N |
| G/S | 0.702 | likely_pathogenic | 0.6127 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.560066435 | None | None | N |
| G/T | 0.9314 | likely_pathogenic | 0.8833 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/V | 0.965 | likely_pathogenic | 0.9434 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.593749951 | None | None | N |
| G/W | 0.9752 | likely_pathogenic | 0.9642 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/Y | 0.9803 | likely_pathogenic | 0.9708 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.825 | 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.