Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19016 | 57271;57272;57273 | chr2:178598571;178598570;178598569 | chr2:179463298;179463297;179463296 |
| N2AB | 17375 | 52348;52349;52350 | chr2:178598571;178598570;178598569 | chr2:179463298;179463297;179463296 |
| N2A | 16448 | 49567;49568;49569 | chr2:178598571;178598570;178598569 | chr2:179463298;179463297;179463296 |
| N2B | 9951 | 30076;30077;30078 | chr2:178598571;178598570;178598569 | chr2:179463298;179463297;179463296 |
| Novex-1 | 10076 | 30451;30452;30453 | chr2:178598571;178598570;178598569 | chr2:179463298;179463297;179463296 |
| Novex-2 | 10143 | 30652;30653;30654 | chr2:178598571;178598570;178598569 | chr2:179463298;179463297;179463296 |
| 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/S | rs933740725  |
None | 1.0 | N | 0.785 | 0.524 | 0.358340041657 | gnomAD-4.0.0 | 1.60659E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.47506E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9227 | likely_pathogenic | 0.9172 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.523239241 | None | None | I |
| G/C | 0.9707 | likely_pathogenic | 0.9647 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.542446359 | None | None | I |
| G/D | 0.9885 | likely_pathogenic | 0.9859 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.501803623 | None | None | I |
| G/E | 0.9933 | likely_pathogenic | 0.9917 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/F | 0.9961 | likely_pathogenic | 0.9956 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/H | 0.9949 | likely_pathogenic | 0.9932 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/I | 0.9971 | likely_pathogenic | 0.9965 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/K | 0.9963 | likely_pathogenic | 0.9948 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/L | 0.995 | likely_pathogenic | 0.995 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/M | 0.9968 | likely_pathogenic | 0.9968 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/N | 0.9808 | likely_pathogenic | 0.978 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Q | 0.9924 | likely_pathogenic | 0.9904 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/R | 0.9851 | likely_pathogenic | 0.9782 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.490891845 | None | None | I |
| G/S | 0.8688 | likely_pathogenic | 0.8513 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.505677964 | None | None | I |
| G/T | 0.9876 | likely_pathogenic | 0.9847 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/V | 0.9945 | likely_pathogenic | 0.9933 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.515441334 | None | None | I |
| G/W | 0.9912 | likely_pathogenic | 0.9891 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/Y | 0.9935 | likely_pathogenic | 0.9921 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.755 | 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.