Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24602 | 74029;74030;74031 | chr2:178572328;178572327;178572326 | chr2:179437055;179437054;179437053 |
| N2AB | 22961 | 69106;69107;69108 | chr2:178572328;178572327;178572326 | chr2:179437055;179437054;179437053 |
| N2A | 22034 | 66325;66326;66327 | chr2:178572328;178572327;178572326 | chr2:179437055;179437054;179437053 |
| N2B | 15537 | 46834;46835;46836 | chr2:178572328;178572327;178572326 | chr2:179437055;179437054;179437053 |
| Novex-1 | 15662 | 47209;47210;47211 | chr2:178572328;178572327;178572326 | chr2:179437055;179437054;179437053 |
| Novex-2 | 15729 | 47410;47411;47412 | chr2:178572328;178572327;178572326 | chr2:179437055;179437054;179437053 |
| 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/R | rs758124616  |
-1.007 | 1.0 | D | 0.958 | 0.655 | 0.761929420907 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs758124616 |
-1.007 | 1.0 | D | 0.958 | 0.655 | 0.761929420907 | gnomAD-4.0.0 | 1.59648E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8715E-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 | 0.925 | likely_pathogenic | 0.8641 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.555387552 | None | None | N |
| G/C | 0.9839 | likely_pathogenic | 0.9589 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/D | 0.9988 | likely_pathogenic | 0.9965 | pathogenic | -1.455 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/E | 0.9992 | likely_pathogenic | 0.9979 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.96 | deleterious | D | 0.555134062 | None | None | N |
| G/F | 0.9991 | likely_pathogenic | 0.9977 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| G/H | 0.9992 | likely_pathogenic | 0.9976 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/I | 0.9986 | likely_pathogenic | 0.997 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.94 | deleterious | None | None | None | None | N |
| G/K | 0.9998 | likely_pathogenic | 0.9994 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.959 | deleterious | None | None | None | None | N |
| G/L | 0.9977 | likely_pathogenic | 0.9954 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.947 | deleterious | None | None | None | None | N |
| G/M | 0.9991 | likely_pathogenic | 0.998 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/N | 0.998 | likely_pathogenic | 0.9946 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9991 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.953 | deleterious | None | None | None | None | N |
| G/Q | 0.999 | likely_pathogenic | 0.9977 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.946 | deleterious | None | None | None | None | N |
| G/R | 0.9989 | likely_pathogenic | 0.9974 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.958 | deleterious | D | 0.543359683 | None | None | N |
| G/S | 0.7986 | likely_pathogenic | 0.6382 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/T | 0.9898 | likely_pathogenic | 0.9738 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.951 | deleterious | None | None | None | None | N |
| G/V | 0.997 | likely_pathogenic | 0.993 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.952 | deleterious | D | 0.567250836 | None | None | N |
| G/W | 0.9988 | likely_pathogenic | 0.9963 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.908 | deleterious | D | 0.568011305 | None | None | N |
| G/Y | 0.999 | likely_pathogenic | 0.9973 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.923 | 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.