Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28680 | 86263;86264;86265 | chr2:178560094;178560093;178560092 | chr2:179424821;179424820;179424819 |
| N2AB | 27039 | 81340;81341;81342 | chr2:178560094;178560093;178560092 | chr2:179424821;179424820;179424819 |
| N2A | 26112 | 78559;78560;78561 | chr2:178560094;178560093;178560092 | chr2:179424821;179424820;179424819 |
| N2B | 19615 | 59068;59069;59070 | chr2:178560094;178560093;178560092 | chr2:179424821;179424820;179424819 |
| Novex-1 | 19740 | 59443;59444;59445 | chr2:178560094;178560093;178560092 | chr2:179424821;179424820;179424819 |
| Novex-2 | 19807 | 59644;59645;59646 | chr2:178560094;178560093;178560092 | chr2:179424821;179424820;179424819 |
| 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/E | rs1331671619  |
-0.486 | 1.0 | N | 0.785 | 0.496 | 0.781557828842 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 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 | 0.7983 | likely_pathogenic | 0.7189 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.493095388 | None | None | I |
| G/C | 0.877 | likely_pathogenic | 0.8051 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/D | 0.9507 | likely_pathogenic | 0.9277 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/E | 0.9589 | likely_pathogenic | 0.9363 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.512453864 | None | None | I |
| G/F | 0.9785 | likely_pathogenic | 0.9724 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/H | 0.9612 | likely_pathogenic | 0.93 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/I | 0.9708 | likely_pathogenic | 0.9669 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.9541 | likely_pathogenic | 0.9167 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/L | 0.9614 | likely_pathogenic | 0.9455 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/M | 0.9677 | likely_pathogenic | 0.9557 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/N | 0.9092 | likely_pathogenic | 0.8621 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| G/P | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Q | 0.936 | likely_pathogenic | 0.896 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/R | 0.9125 | likely_pathogenic | 0.8504 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.497401029 | None | None | I |
| G/S | 0.671 | likely_pathogenic | 0.5607 | ambiguous | -0.568 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| G/T | 0.9172 | likely_pathogenic | 0.8841 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/V | 0.9521 | likely_pathogenic | 0.9423 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.531318588 | None | None | I |
| G/W | 0.9704 | likely_pathogenic | 0.9602 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.549929822 | None | None | I |
| G/Y | 0.9629 | likely_pathogenic | 0.9476 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.772 | 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.