Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32428 | 97507;97508;97509 | chr2:178542474;178542473;178542472 | chr2:179407201;179407200;179407199 |
| N2AB | 30787 | 92584;92585;92586 | chr2:178542474;178542473;178542472 | chr2:179407201;179407200;179407199 |
| N2A | 29860 | 89803;89804;89805 | chr2:178542474;178542473;178542472 | chr2:179407201;179407200;179407199 |
| N2B | 23363 | 70312;70313;70314 | chr2:178542474;178542473;178542472 | chr2:179407201;179407200;179407199 |
| Novex-1 | 23488 | 70687;70688;70689 | chr2:178542474;178542473;178542472 | chr2:179407201;179407200;179407199 |
| Novex-2 | 23555 | 70888;70889;70890 | chr2:178542474;178542473;178542472 | chr2:179407201;179407200;179407199 |
| 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 | rs1060500592  |
None | 1.0 | D | 0.822 | 0.503 | 0.437207349437 | gnomAD-4.0.0 | 2.7374E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59841E-06 | 0 | 0 |
| G/S | rs757420687 |
-0.547 | 1.0 | N | 0.794 | 0.476 | 0.390220360785 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.57E-05 | 0 |
| G/S | rs757420687 |
-0.547 | 1.0 | N | 0.794 | 0.476 | 0.390220360785 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07383E-04 | 0 |
| G/S | rs757420687 |
-0.547 | 1.0 | N | 0.794 | 0.476 | 0.390220360785 | gnomAD-4.0.0 | 1.11567E-05 | None | None | None | None | I | None | 6.67539E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47732E-06 | 3.29453E-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 | 0.952 | likely_pathogenic | 0.9271 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.519077595 | None | None | I |
| G/C | 0.9819 | likely_pathogenic | 0.9757 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.538449298 | None | None | I |
| G/D | 0.9962 | likely_pathogenic | 0.9946 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.524647003 | None | None | I |
| G/E | 0.9977 | likely_pathogenic | 0.9965 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/F | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/H | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/I | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/K | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.997 | likely_pathogenic | 0.9964 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/M | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.9963 | likely_pathogenic | 0.9954 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/Q | 0.9972 | likely_pathogenic | 0.9963 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/R | 0.9899 | likely_pathogenic | 0.9874 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.510176825 | None | None | I |
| G/S | 0.9425 | likely_pathogenic | 0.9209 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.513037208 | None | None | I |
| G/T | 0.9926 | likely_pathogenic | 0.9906 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/V | 0.9951 | likely_pathogenic | 0.9934 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.549552114 | None | None | I |
| G/W | 0.9948 | likely_pathogenic | 0.9935 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/Y | 0.9972 | likely_pathogenic | 0.9966 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.795 | 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.