Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18560 | 55903;55904;55905 | chr2:178601319;178601318;178601317 | chr2:179466046;179466045;179466044 |
| N2AB | 16919 | 50980;50981;50982 | chr2:178601319;178601318;178601317 | chr2:179466046;179466045;179466044 |
| N2A | 15992 | 48199;48200;48201 | chr2:178601319;178601318;178601317 | chr2:179466046;179466045;179466044 |
| N2B | 9495 | 28708;28709;28710 | chr2:178601319;178601318;178601317 | chr2:179466046;179466045;179466044 |
| Novex-1 | 9620 | 29083;29084;29085 | chr2:178601319;178601318;178601317 | chr2:179466046;179466045;179466044 |
| Novex-2 | 9687 | 29284;29285;29286 | chr2:178601319;178601318;178601317 | chr2:179466046;179466045;179466044 |
| 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 | rs1334608070  |
None | 1.0 | D | 0.899 | 0.756 | 0.497086342495 | gnomAD-4.0.0 | 1.60925E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.79392E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1334608070 |
None | 1.0 | D | 0.871 | 0.729 | 0.867972921675 | gnomAD-4.0.0 | 1.60926E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89456E-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 | 0.8737 | likely_pathogenic | 0.8481 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.546002575 | None | None | I |
| G/C | 0.9423 | likely_pathogenic | 0.9233 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.558790912 | None | None | I |
| G/D | 0.9652 | likely_pathogenic | 0.9563 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.528823372 | None | None | I |
| G/E | 0.9821 | likely_pathogenic | 0.9779 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/F | 0.9944 | likely_pathogenic | 0.9921 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/H | 0.9833 | likely_pathogenic | 0.9797 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/I | 0.9948 | likely_pathogenic | 0.9928 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/K | 0.9889 | likely_pathogenic | 0.986 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/L | 0.9869 | likely_pathogenic | 0.9844 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/M | 0.9942 | likely_pathogenic | 0.9932 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/N | 0.9696 | likely_pathogenic | 0.9651 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/Q | 0.9736 | likely_pathogenic | 0.9688 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
| G/R | 0.9639 | likely_pathogenic | 0.953 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.535153248 | None | None | I |
| G/S | 0.748 | likely_pathogenic | 0.7062 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.53439278 | None | None | I |
| G/T | 0.9634 | likely_pathogenic | 0.9549 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/V | 0.9891 | likely_pathogenic | 0.9847 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.534646269 | None | None | I |
| G/W | 0.9906 | likely_pathogenic | 0.9848 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/Y | 0.9904 | likely_pathogenic | 0.9867 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.874 | deleterious | 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.