Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27002 | 81229;81230;81231 | chr2:178565128;178565127;178565126 | chr2:179429855;179429854;179429853 |
| N2AB | 25361 | 76306;76307;76308 | chr2:178565128;178565127;178565126 | chr2:179429855;179429854;179429853 |
| N2A | 24434 | 73525;73526;73527 | chr2:178565128;178565127;178565126 | chr2:179429855;179429854;179429853 |
| N2B | 17937 | 54034;54035;54036 | chr2:178565128;178565127;178565126 | chr2:179429855;179429854;179429853 |
| Novex-1 | 18062 | 54409;54410;54411 | chr2:178565128;178565127;178565126 | chr2:179429855;179429854;179429853 |
| Novex-2 | 18129 | 54610;54611;54612 | chr2:178565128;178565127;178565126 | chr2:179429855;179429854;179429853 |
| 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 | rs755052544  |
-0.393 | 1.0 | N | 0.695 | 0.605 | 0.535537035517 | gnomAD-2.1.1 | 3.63E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 2.94445E-04 | None | 0 | 0 | 0 |
| G/S | rs755052544 |
-0.393 | 1.0 | N | 0.695 | 0.605 | 0.535537035517 | gnomAD-4.0.0 | 8.89641E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.27619E-04 | 3.31356E-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 | 0.8897 | likely_pathogenic | 0.9045 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.50236719 | None | None | I |
| G/C | 0.9564 | likely_pathogenic | 0.9653 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.535096661 | None | None | I |
| G/D | 0.9822 | likely_pathogenic | 0.987 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.522561813 | None | None | I |
| G/E | 0.9892 | likely_pathogenic | 0.9923 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/F | 0.9912 | likely_pathogenic | 0.9931 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/H | 0.9922 | likely_pathogenic | 0.9935 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/I | 0.9843 | likely_pathogenic | 0.9891 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.9942 | likely_pathogenic | 0.9956 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/L | 0.9872 | likely_pathogenic | 0.989 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9925 | likely_pathogenic | 0.9936 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/N | 0.9702 | likely_pathogenic | 0.9744 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| G/P | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/Q | 0.9882 | likely_pathogenic | 0.9903 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/R | 0.9814 | likely_pathogenic | 0.9858 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.511458997 | None | None | I |
| G/S | 0.8093 | likely_pathogenic | 0.797 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.501099742 | None | None | I |
| G/T | 0.9693 | likely_pathogenic | 0.9758 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/V | 0.9778 | likely_pathogenic | 0.9844 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.552186958 | None | None | I |
| G/W | 0.9869 | likely_pathogenic | 0.9903 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/Y | 0.987 | likely_pathogenic | 0.9892 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.767 | 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.