Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8500 | 25723;25724;25725 | chr2:178717236;178717235;178717234 | chr2:179581963;179581962;179581961 |
| N2AB | 8183 | 24772;24773;24774 | chr2:178717236;178717235;178717234 | chr2:179581963;179581962;179581961 |
| N2A | 7256 | 21991;21992;21993 | chr2:178717236;178717235;178717234 | chr2:179581963;179581962;179581961 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | N | 0.612 | 0.279 | 0.198526703765 | gnomAD-4.0.0 | 1.36857E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99554E-07 | 0 | 1.65695E-05 |
| G/S | rs779848708  |
-0.366 | 1.0 | N | 0.619 | 0.248 | 0.168933306366 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/S | rs779848708 |
-0.366 | 1.0 | N | 0.619 | 0.248 | 0.168933306366 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs779848708 |
-0.366 | 1.0 | N | 0.619 | 0.248 | 0.168933306366 | gnomAD-4.0.0 | 2.56258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78725E-06 | 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 | 0.3843 | ambiguous | 0.3869 | ambiguous | -0.257 | Destabilizing | 0.999 | D | 0.485 | neutral | N | 0.49082248 | None | None | N |
| G/C | 0.7245 | likely_pathogenic | 0.7229 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.487625118 | None | None | N |
| G/D | 0.8938 | likely_pathogenic | 0.8767 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.612 | neutral | N | 0.456573833 | None | None | N |
| G/E | 0.8778 | likely_pathogenic | 0.8599 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/F | 0.8952 | likely_pathogenic | 0.8858 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/H | 0.8864 | likely_pathogenic | 0.8763 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| G/I | 0.7097 | likely_pathogenic | 0.6843 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/K | 0.9128 | likely_pathogenic | 0.8995 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| G/L | 0.8257 | likely_pathogenic | 0.8237 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/M | 0.8361 | likely_pathogenic | 0.8264 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| G/N | 0.7447 | likely_pathogenic | 0.7224 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.616 | neutral | None | None | None | None | N |
| G/P | 0.9588 | likely_pathogenic | 0.9591 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/Q | 0.8039 | likely_pathogenic | 0.7845 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/R | 0.7973 | likely_pathogenic | 0.7733 | pathogenic | -0.277 | Destabilizing | 0.979 | D | 0.491 | neutral | N | 0.484800585 | None | None | N |
| G/S | 0.2556 | likely_benign | 0.2641 | benign | -0.571 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.434217049 | None | None | N |
| G/T | 0.5803 | likely_pathogenic | 0.5708 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/V | 0.603 | likely_pathogenic | 0.5841 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.461772182 | None | None | N |
| G/W | 0.8219 | likely_pathogenic | 0.8053 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/Y | 0.8646 | likely_pathogenic | 0.8475 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.781 | 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.