Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21791 | 65596;65597;65598 | chr2:178583811;178583810;178583809 | chr2:179448538;179448537;179448536 |
| N2AB | 20150 | 60673;60674;60675 | chr2:178583811;178583810;178583809 | chr2:179448538;179448537;179448536 |
| N2A | 19223 | 57892;57893;57894 | chr2:178583811;178583810;178583809 | chr2:179448538;179448537;179448536 |
| N2B | 12726 | 38401;38402;38403 | chr2:178583811;178583810;178583809 | chr2:179448538;179448537;179448536 |
| Novex-1 | 12851 | 38776;38777;38778 | chr2:178583811;178583810;178583809 | chr2:179448538;179448537;179448536 |
| Novex-2 | 12918 | 38977;38978;38979 | chr2:178583811;178583810;178583809 | chr2:179448538;179448537;179448536 |
| 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/C | None | None | 1.0 | N | 0.809 | 0.474 | 0.829361377409 | gnomAD-4.0.0 | 4.80176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30584E-06 | 0 | 0 |
| G/S | rs370878527  |
-1.219 | 1.0 | N | 0.72 | 0.448 | None | gnomAD-2.1.1 | 2.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.81E-05 | 0 |
| G/S | rs370878527 |
-1.219 | 1.0 | N | 0.72 | 0.448 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| G/S | rs370878527 |
-1.219 | 1.0 | N | 0.72 | 0.448 | None | gnomAD-4.0.0 | 6.21193E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.2153E-05 | 0 | 2.40863E-04 |
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 | 0.5852 | likely_pathogenic | 0.4556 | ambiguous | -0.817 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.49910196 | None | None | N |
| G/C | 0.8895 | likely_pathogenic | 0.7709 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.515359791 | None | None | N |
| G/D | 0.9824 | likely_pathogenic | 0.9518 | pathogenic | -1.964 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.500836707 | None | None | N |
| G/E | 0.9865 | likely_pathogenic | 0.9621 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/F | 0.9937 | likely_pathogenic | 0.9843 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/H | 0.9897 | likely_pathogenic | 0.9689 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/I | 0.9932 | likely_pathogenic | 0.981 | pathogenic | 0.316 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/K | 0.9964 | likely_pathogenic | 0.9891 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/L | 0.9912 | likely_pathogenic | 0.9787 | pathogenic | 0.316 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/M | 0.9944 | likely_pathogenic | 0.9837 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/N | 0.9768 | likely_pathogenic | 0.9312 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -0.024 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/Q | 0.9818 | likely_pathogenic | 0.955 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/R | 0.9808 | likely_pathogenic | 0.9563 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.504835952 | None | None | N |
| G/S | 0.5068 | ambiguous | 0.3241 | benign | -1.376 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.476754517 | None | None | N |
| G/T | 0.936 | likely_pathogenic | 0.8258 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/V | 0.9818 | likely_pathogenic | 0.9536 | pathogenic | -0.024 | Destabilizing | 1.0 | D | 0.89 | deleterious | N | 0.517713194 | None | None | N |
| G/W | 0.9861 | likely_pathogenic | 0.9669 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/Y | 0.9861 | likely_pathogenic | 0.9647 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.847 | 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.