Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30606 | 92041;92042;92043 | chr2:178550022;178550021;178550020 | chr2:179414749;179414748;179414747 |
| N2AB | 28965 | 87118;87119;87120 | chr2:178550022;178550021;178550020 | chr2:179414749;179414748;179414747 |
| N2A | 28038 | 84337;84338;84339 | chr2:178550022;178550021;178550020 | chr2:179414749;179414748;179414747 |
| N2B | 21541 | 64846;64847;64848 | chr2:178550022;178550021;178550020 | chr2:179414749;179414748;179414747 |
| Novex-1 | 21666 | 65221;65222;65223 | chr2:178550022;178550021;178550020 | chr2:179414749;179414748;179414747 |
| Novex-2 | 21733 | 65422;65423;65424 | chr2:178550022;178550021;178550020 | chr2:179414749;179414748;179414747 |
| 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 | None | None | 1.0 | D | 0.761 | 0.697 | 0.55046033382 | 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 |
| G/C | rs773344105  |
-0.531 | 1.0 | D | 0.851 | 0.743 | 0.686373814236 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/R | None | None | 1.0 | D | 0.902 | 0.741 | 0.624848976157 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/V | None | None | 1.0 | D | 0.871 | 0.662 | 0.723075696567 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.6078 | likely_pathogenic | 0.614 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.608729931 | None | None | I |
| G/C | 0.8348 | likely_pathogenic | 0.8167 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.647319265 | None | None | I |
| G/D | 0.9006 | likely_pathogenic | 0.9012 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.577448423 | None | None | I |
| G/E | 0.9482 | likely_pathogenic | 0.9439 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/F | 0.974 | likely_pathogenic | 0.9719 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/H | 0.9461 | likely_pathogenic | 0.9404 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/I | 0.9676 | likely_pathogenic | 0.9633 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/K | 0.9561 | likely_pathogenic | 0.9476 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/L | 0.9524 | likely_pathogenic | 0.9474 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/M | 0.9681 | likely_pathogenic | 0.9651 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/N | 0.8822 | likely_pathogenic | 0.8757 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/Q | 0.9237 | likely_pathogenic | 0.9133 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/R | 0.8967 | likely_pathogenic | 0.8807 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.614271522 | None | None | I |
| G/S | 0.4514 | ambiguous | 0.4504 | ambiguous | -0.321 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.57980043 | None | None | I |
| G/T | 0.8654 | likely_pathogenic | 0.8518 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/V | 0.9358 | likely_pathogenic | 0.9309 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.646915657 | None | None | I |
| G/W | 0.9717 | likely_pathogenic | 0.9689 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/Y | 0.9556 | likely_pathogenic | 0.953 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.876 | 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.