Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28579 | 85960;85961;85962 | chr2:178560397;178560396;178560395 | chr2:179425124;179425123;179425122 |
| N2AB | 26938 | 81037;81038;81039 | chr2:178560397;178560396;178560395 | chr2:179425124;179425123;179425122 |
| N2A | 26011 | 78256;78257;78258 | chr2:178560397;178560396;178560395 | chr2:179425124;179425123;179425122 |
| N2B | 19514 | 58765;58766;58767 | chr2:178560397;178560396;178560395 | chr2:179425124;179425123;179425122 |
| Novex-1 | 19639 | 59140;59141;59142 | chr2:178560397;178560396;178560395 | chr2:179425124;179425123;179425122 |
| Novex-2 | 19706 | 59341;59342;59343 | chr2:178560397;178560396;178560395 | chr2:179425124;179425123;179425122 |
| 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/A | rs767264941  |
-0.075 | 1.0 | N | 0.607 | 0.455 | 0.481393932785 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/A | rs767264941 |
-0.075 | 1.0 | N | 0.607 | 0.455 | 0.481393932785 | gnomAD-4.0.0 | 1.59149E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85819E-06 | 0 | 0 |
| G/C | None | None | 1.0 | D | 0.784 | 0.537 | 0.816889545193 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5928 | likely_pathogenic | 0.5198 | ambiguous | -0.114 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.49759425 | None | None | I |
| G/C | 0.583 | likely_pathogenic | 0.5033 | ambiguous | -0.801 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.542173779 | None | None | I |
| G/D | 0.6999 | likely_pathogenic | 0.5805 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | D | 0.523055566 | None | None | I |
| G/E | 0.7479 | likely_pathogenic | 0.6428 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/F | 0.9093 | likely_pathogenic | 0.8798 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/H | 0.7694 | likely_pathogenic | 0.6883 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/I | 0.894 | likely_pathogenic | 0.8557 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/K | 0.713 | likely_pathogenic | 0.6432 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/L | 0.8778 | likely_pathogenic | 0.8306 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/M | 0.8815 | likely_pathogenic | 0.8413 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/N | 0.6614 | likely_pathogenic | 0.5651 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| G/P | 0.991 | likely_pathogenic | 0.9851 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Q | 0.688 | likely_pathogenic | 0.5941 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/R | 0.5968 | likely_pathogenic | 0.5265 | ambiguous | -0.031 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.513763175 | None | None | I |
| G/S | 0.3533 | ambiguous | 0.2852 | benign | -0.265 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.490401773 | None | None | I |
| G/T | 0.7658 | likely_pathogenic | 0.6927 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/V | 0.8428 | likely_pathogenic | 0.7903 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.547743186 | None | None | I |
| G/W | 0.8591 | likely_pathogenic | 0.8099 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/Y | 0.8323 | likely_pathogenic | 0.7767 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.768 | 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.