Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21648 | 65167;65168;65169 | chr2:178584699;178584698;178584697 | chr2:179449426;179449425;179449424 |
| N2AB | 20007 | 60244;60245;60246 | chr2:178584699;178584698;178584697 | chr2:179449426;179449425;179449424 |
| N2A | 19080 | 57463;57464;57465 | chr2:178584699;178584698;178584697 | chr2:179449426;179449425;179449424 |
| N2B | 12583 | 37972;37973;37974 | chr2:178584699;178584698;178584697 | chr2:179449426;179449425;179449424 |
| Novex-1 | 12708 | 38347;38348;38349 | chr2:178584699;178584698;178584697 | chr2:179449426;179449425;179449424 |
| Novex-2 | 12775 | 38548;38549;38550 | chr2:178584699;178584698;178584697 | chr2:179449426;179449425;179449424 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs765042066  |
-0.398 | 0.994 | N | 0.689 | 0.241 | 0.258779203287 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/A | rs765042066 |
-0.398 | 0.994 | N | 0.689 | 0.241 | 0.258779203287 | gnomAD-4.0.0 | 1.59195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 0 |
| S/F | rs761835878 |
-0.541 | 0.999 | N | 0.853 | 0.37 | 0.724992724663 | gnomAD-4.0.0 | 3.18386E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85974E-06 | 1.43324E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3176 | likely_benign | 0.3537 | ambiguous | -0.132 | Destabilizing | 0.994 | D | 0.689 | prob.delet. | N | 0.51548693 | None | None | N |
| S/C | 0.3606 | ambiguous | 0.4395 | ambiguous | 0.266 | Stabilizing | 1.0 | D | 0.763 | deleterious | N | 0.511008606 | None | None | N |
| S/D | 0.9647 | likely_pathogenic | 0.978 | pathogenic | -0.216 | Destabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | N |
| S/E | 0.9879 | likely_pathogenic | 0.9929 | pathogenic | -0.031 | Destabilizing | 0.998 | D | 0.827 | deleterious | None | None | None | None | N |
| S/F | 0.9145 | likely_pathogenic | 0.9526 | pathogenic | -0.173 | Destabilizing | 0.999 | D | 0.853 | deleterious | N | 0.499398811 | None | None | N |
| S/G | 0.281 | likely_benign | 0.3061 | benign | -0.505 | Destabilizing | 0.998 | D | 0.763 | deleterious | None | None | None | None | N |
| S/H | 0.906 | likely_pathogenic | 0.9587 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| S/I | 0.8403 | likely_pathogenic | 0.902 | pathogenic | 0.801 | Stabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| S/K | 0.9956 | likely_pathogenic | 0.9974 | pathogenic | 0.706 | Stabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| S/L | 0.5986 | likely_pathogenic | 0.6776 | pathogenic | 0.801 | Stabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| S/M | 0.7484 | likely_pathogenic | 0.8153 | pathogenic | 0.474 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| S/N | 0.8333 | likely_pathogenic | 0.8944 | pathogenic | 0.036 | Stabilizing | 0.998 | D | 0.823 | deleterious | None | None | None | None | N |
| S/P | 0.9682 | likely_pathogenic | 0.9789 | pathogenic | 0.525 | Stabilizing | 0.999 | D | 0.861 | deleterious | N | 0.509793108 | None | None | N |
| S/Q | 0.9745 | likely_pathogenic | 0.9847 | pathogenic | 0.293 | Stabilizing | 0.999 | D | 0.874 | deleterious | None | None | None | None | N |
| S/R | 0.9946 | likely_pathogenic | 0.9968 | pathogenic | 0.236 | Stabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| S/T | 0.2545 | likely_benign | 0.2624 | benign | 0.307 | Stabilizing | 0.997 | D | 0.76 | deleterious | N | 0.505963369 | None | None | N |
| S/V | 0.777 | likely_pathogenic | 0.8404 | pathogenic | 0.525 | Stabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| S/W | 0.9518 | likely_pathogenic | 0.9774 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| S/Y | 0.9085 | likely_pathogenic | 0.9525 | pathogenic | 0.118 | Stabilizing | 0.999 | D | 0.86 | deleterious | D | 0.528605882 | 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.