Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27198 | 81817;81818;81819 | chr2:178564540;178564539;178564538 | chr2:179429267;179429266;179429265 |
| N2AB | 25557 | 76894;76895;76896 | chr2:178564540;178564539;178564538 | chr2:179429267;179429266;179429265 |
| N2A | 24630 | 74113;74114;74115 | chr2:178564540;178564539;178564538 | chr2:179429267;179429266;179429265 |
| N2B | 18133 | 54622;54623;54624 | chr2:178564540;178564539;178564538 | chr2:179429267;179429266;179429265 |
| Novex-1 | 18258 | 54997;54998;54999 | chr2:178564540;178564539;178564538 | chr2:179429267;179429266;179429265 |
| Novex-2 | 18325 | 55198;55199;55200 | chr2:178564540;178564539;178564538 | chr2:179429267;179429266;179429265 |
| 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 | rs1469148662  |
-0.261 | 1.0 | D | 0.829 | 0.59 | 0.433491693731 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.67056E-04 |
| G/D | rs1469148662 |
-0.261 | 1.0 | D | 0.829 | 0.59 | 0.433491693731 | gnomAD-4.0.0 | 1.59274E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41313E-04 | 0 | 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 | 0.9532 | likely_pathogenic | 0.9262 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.528505933 | None | None | I |
| G/C | 0.9828 | likely_pathogenic | 0.9736 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.538167172 | None | None | I |
| G/D | 0.9973 | likely_pathogenic | 0.9956 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.524022482 | None | None | I |
| G/E | 0.9982 | likely_pathogenic | 0.9968 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/F | 0.9985 | likely_pathogenic | 0.9976 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/H | 0.9986 | likely_pathogenic | 0.9978 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/I | 0.9985 | likely_pathogenic | 0.9974 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.9982 | likely_pathogenic | 0.9971 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/L | 0.9979 | likely_pathogenic | 0.9966 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/M | 0.9989 | likely_pathogenic | 0.9981 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/N | 0.9969 | likely_pathogenic | 0.9952 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/Q | 0.9977 | likely_pathogenic | 0.9963 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/R | 0.9917 | likely_pathogenic | 0.9869 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.501754398 | None | None | I |
| G/S | 0.9499 | likely_pathogenic | 0.9219 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.511438408 | None | None | I |
| G/T | 0.9945 | likely_pathogenic | 0.9916 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/V | 0.9966 | likely_pathogenic | 0.9943 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.521530947 | None | None | I |
| G/W | 0.9967 | likely_pathogenic | 0.9946 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Y | 0.9979 | likely_pathogenic | 0.9968 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.803 | 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.