Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33224 | 99895;99896;99897 | chr2:178537537;178537536;178537535 | chr2:179402264;179402263;179402262 |
| N2AB | 31583 | 94972;94973;94974 | chr2:178537537;178537536;178537535 | chr2:179402264;179402263;179402262 |
| N2A | 30656 | 92191;92192;92193 | chr2:178537537;178537536;178537535 | chr2:179402264;179402263;179402262 |
| N2B | 24159 | 72700;72701;72702 | chr2:178537537;178537536;178537535 | chr2:179402264;179402263;179402262 |
| Novex-1 | 24284 | 73075;73076;73077 | chr2:178537537;178537536;178537535 | chr2:179402264;179402263;179402262 |
| Novex-2 | 24351 | 73276;73277;73278 | chr2:178537537;178537536;178537535 | chr2:179402264;179402263;179402262 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs879139495  |
-2.58 | 1.0 | D | 0.763 | 0.703 | None | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-06 | 1.40607E-04 |
| P/S | rs879139495 |
-2.58 | 1.0 | D | 0.763 | 0.703 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs879139495 |
-2.58 | 1.0 | D | 0.763 | 0.703 | None | gnomAD-4.0.0 | 6.4062E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17927E-06 | 2.68068E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9479 | likely_pathogenic | 0.9503 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.533476587 | None | None | N |
| P/C | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/D | 0.9871 | likely_pathogenic | 0.9869 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/E | 0.9824 | likely_pathogenic | 0.9834 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/F | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/G | 0.9793 | likely_pathogenic | 0.9809 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| P/H | 0.9914 | likely_pathogenic | 0.9923 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/I | 0.9915 | likely_pathogenic | 0.9924 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/K | 0.9925 | likely_pathogenic | 0.9926 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/L | 0.9689 | likely_pathogenic | 0.9688 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.581364862 | None | None | N |
| P/M | 0.9921 | likely_pathogenic | 0.9926 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/N | 0.9902 | likely_pathogenic | 0.9897 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/Q | 0.9856 | likely_pathogenic | 0.9868 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.533476587 | None | None | N |
| P/R | 0.9854 | likely_pathogenic | 0.9864 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.580961254 | None | None | N |
| P/S | 0.9835 | likely_pathogenic | 0.9842 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.532969608 | None | None | N |
| P/T | 0.9643 | likely_pathogenic | 0.9662 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.580961254 | None | None | N |
| P/V | 0.9797 | likely_pathogenic | 0.9812 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/W | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/Y | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.82 | 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.