Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28874 | 86845;86846;86847 | chr2:178559512;178559511;178559510 | chr2:179424239;179424238;179424237 |
| N2AB | 27233 | 81922;81923;81924 | chr2:178559512;178559511;178559510 | chr2:179424239;179424238;179424237 |
| N2A | 26306 | 79141;79142;79143 | chr2:178559512;178559511;178559510 | chr2:179424239;179424238;179424237 |
| N2B | 19809 | 59650;59651;59652 | chr2:178559512;178559511;178559510 | chr2:179424239;179424238;179424237 |
| Novex-1 | 19934 | 60025;60026;60027 | chr2:178559512;178559511;178559510 | chr2:179424239;179424238;179424237 |
| Novex-2 | 20001 | 60226;60227;60228 | chr2:178559512;178559511;178559510 | chr2:179424239;179424238;179424237 |
| 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/R | rs765852996  |
-0.179 | 1.0 | N | 0.812 | 0.492 | 0.693448398774 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs765852996 |
-0.179 | 1.0 | N | 0.812 | 0.492 | 0.693448398774 | gnomAD-4.0.0 | 4.77426E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29898E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8087 | likely_pathogenic | 0.7355 | pathogenic | -0.287 | Destabilizing | 0.998 | D | 0.622 | neutral | N | 0.477514985 | None | None | I |
| G/C | 0.86 | likely_pathogenic | 0.7938 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/D | 0.9771 | likely_pathogenic | 0.9584 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/E | 0.981 | likely_pathogenic | 0.9656 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.509902061 | None | None | I |
| G/F | 0.9797 | likely_pathogenic | 0.9655 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/H | 0.9862 | likely_pathogenic | 0.9738 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/I | 0.9801 | likely_pathogenic | 0.969 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/K | 0.991 | likely_pathogenic | 0.9841 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/L | 0.9702 | likely_pathogenic | 0.9507 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/M | 0.9769 | likely_pathogenic | 0.9606 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/N | 0.9547 | likely_pathogenic | 0.9225 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Q | 0.9771 | likely_pathogenic | 0.9584 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/R | 0.9739 | likely_pathogenic | 0.9555 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.490556812 | None | None | I |
| G/S | 0.687 | likely_pathogenic | 0.5692 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| G/T | 0.9454 | likely_pathogenic | 0.9135 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/V | 0.965 | likely_pathogenic | 0.9471 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.524536823 | None | None | I |
| G/W | 0.9783 | likely_pathogenic | 0.9645 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/Y | 0.9751 | likely_pathogenic | 0.9565 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.785 | 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.