Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18809 | 56650;56651;56652 | chr2:178599368;178599367;178599366 | chr2:179464095;179464094;179464093 |
| N2AB | 17168 | 51727;51728;51729 | chr2:178599368;178599367;178599366 | chr2:179464095;179464094;179464093 |
| N2A | 16241 | 48946;48947;48948 | chr2:178599368;178599367;178599366 | chr2:179464095;179464094;179464093 |
| N2B | 9744 | 29455;29456;29457 | chr2:178599368;178599367;178599366 | chr2:179464095;179464094;179464093 |
| Novex-1 | 9869 | 29830;29831;29832 | chr2:178599368;178599367;178599366 | chr2:179464095;179464094;179464093 |
| Novex-2 | 9936 | 30031;30032;30033 | chr2:178599368;178599367;178599366 | chr2:179464095;179464094;179464093 |
| 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/H | None | None | 1.0 | D | 0.888 | 0.594 | 0.61690119055 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.863 | 0.489 | 0.45235992198 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.859 | 0.543 | 0.546131560702 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.871 | likely_pathogenic | 0.7973 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.507272396 | None | None | N |
| P/C | 0.9865 | likely_pathogenic | 0.9758 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9981 | pathogenic | -2.097 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/E | 0.9969 | likely_pathogenic | 0.9936 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.999 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/G | 0.9923 | likely_pathogenic | 0.9859 | pathogenic | -2.277 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/H | 0.9966 | likely_pathogenic | 0.9917 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.54910322 | None | None | N |
| P/I | 0.9934 | likely_pathogenic | 0.9867 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9963 | pathogenic | -1.715 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/L | 0.9746 | likely_pathogenic | 0.9457 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.535972488 | None | None | N |
| P/M | 0.996 | likely_pathogenic | 0.9917 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9977 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/Q | 0.9942 | likely_pathogenic | 0.9866 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/R | 0.9944 | likely_pathogenic | 0.9872 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.522351685 | None | None | N |
| P/S | 0.979 | likely_pathogenic | 0.9571 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.494181344 | None | None | N |
| P/T | 0.9739 | likely_pathogenic | 0.9529 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.521844706 | None | None | N |
| P/V | 0.9716 | likely_pathogenic | 0.952 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9993 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9988 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.909 | 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.