Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32230 | 96913;96914;96915 | chr2:178543285;178543284;178543283 | chr2:179408012;179408011;179408010 |
| N2AB | 30589 | 91990;91991;91992 | chr2:178543285;178543284;178543283 | chr2:179408012;179408011;179408010 |
| N2A | 29662 | 89209;89210;89211 | chr2:178543285;178543284;178543283 | chr2:179408012;179408011;179408010 |
| N2B | 23165 | 69718;69719;69720 | chr2:178543285;178543284;178543283 | chr2:179408012;179408011;179408010 |
| Novex-1 | 23290 | 70093;70094;70095 | chr2:178543285;178543284;178543283 | chr2:179408012;179408011;179408010 |
| Novex-2 | 23357 | 70294;70295;70296 | chr2:178543285;178543284;178543283 | chr2:179408012;179408011;179408010 |
| 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/S | None | None | 1.0 | N | 0.807 | 0.431 | 0.383590876969 | gnomAD-4.0.0 | 1.59113E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 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 | 0.862 | likely_pathogenic | 0.8936 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.515957859 | None | None | I |
| G/C | 0.9557 | likely_pathogenic | 0.9683 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.540102501 | None | None | I |
| G/D | 0.99 | likely_pathogenic | 0.9941 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.511576539 | None | None | I |
| G/E | 0.9925 | likely_pathogenic | 0.9957 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/F | 0.9939 | likely_pathogenic | 0.996 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/H | 0.9926 | likely_pathogenic | 0.996 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/I | 0.9928 | likely_pathogenic | 0.9957 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/K | 0.9908 | likely_pathogenic | 0.9951 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/L | 0.9919 | likely_pathogenic | 0.9947 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/M | 0.9949 | likely_pathogenic | 0.997 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/N | 0.9875 | likely_pathogenic | 0.9933 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/P | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/Q | 0.9891 | likely_pathogenic | 0.9941 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/R | 0.9666 | likely_pathogenic | 0.9796 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.494877863 | None | None | I |
| G/S | 0.8415 | likely_pathogenic | 0.8848 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.51132305 | None | None | I |
| G/T | 0.9723 | likely_pathogenic | 0.9821 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/V | 0.9846 | likely_pathogenic | 0.9902 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.507755105 | None | None | I |
| G/W | 0.987 | likely_pathogenic | 0.9917 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Y | 0.9915 | likely_pathogenic | 0.9947 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.791 | 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.