Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28280 | 85063;85064;85065 | chr2:178561294;178561293;178561292 | chr2:179426021;179426020;179426019 |
| N2AB | 26639 | 80140;80141;80142 | chr2:178561294;178561293;178561292 | chr2:179426021;179426020;179426019 |
| N2A | 25712 | 77359;77360;77361 | chr2:178561294;178561293;178561292 | chr2:179426021;179426020;179426019 |
| N2B | 19215 | 57868;57869;57870 | chr2:178561294;178561293;178561292 | chr2:179426021;179426020;179426019 |
| Novex-1 | 19340 | 58243;58244;58245 | chr2:178561294;178561293;178561292 | chr2:179426021;179426020;179426019 |
| Novex-2 | 19407 | 58444;58445;58446 | chr2:178561294;178561293;178561292 | chr2:179426021;179426020;179426019 |
| 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 | None | None | 1.0 | N | 0.826 | 0.694 | 0.338834610459 | gnomAD-4.0.0 | 1.20032E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-05 | 0 | 0 |
| G/V | rs771907926  |
None | 1.0 | N | 0.833 | 0.64 | 0.754785951733 | gnomAD-4.0.0 | 1.80048E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8375E-05 | 0 | 3.66327E-05 |
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 | 0.9058 | likely_pathogenic | 0.918 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.52718926 | None | None | I |
| G/C | 0.9692 | likely_pathogenic | 0.9699 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.543433864 | None | None | I |
| G/D | 0.9942 | likely_pathogenic | 0.9931 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.511184919 | None | None | I |
| G/E | 0.9964 | likely_pathogenic | 0.9958 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/F | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/H | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/I | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/K | 0.9957 | likely_pathogenic | 0.9949 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9961 | likely_pathogenic | 0.9957 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/M | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/N | 0.9931 | likely_pathogenic | 0.992 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/Q | 0.9947 | likely_pathogenic | 0.9939 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/R | 0.9828 | likely_pathogenic | 0.9803 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.501754398 | None | None | I |
| G/S | 0.8911 | likely_pathogenic | 0.8981 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.520325952 | None | None | I |
| G/T | 0.9877 | likely_pathogenic | 0.9879 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/V | 0.9937 | likely_pathogenic | 0.9932 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.510997563 | None | None | I |
| G/W | 0.9942 | likely_pathogenic | 0.9937 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/Y | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.799 | 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.