Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21741 | 65446;65447;65448 | chr2:178584330;178584329;178584328 | chr2:179449057;179449056;179449055 |
| N2AB | 20100 | 60523;60524;60525 | chr2:178584330;178584329;178584328 | chr2:179449057;179449056;179449055 |
| N2A | 19173 | 57742;57743;57744 | chr2:178584330;178584329;178584328 | chr2:179449057;179449056;179449055 |
| N2B | 12676 | 38251;38252;38253 | chr2:178584330;178584329;178584328 | chr2:179449057;179449056;179449055 |
| Novex-1 | 12801 | 38626;38627;38628 | chr2:178584330;178584329;178584328 | chr2:179449057;179449056;179449055 |
| Novex-2 | 12868 | 38827;38828;38829 | chr2:178584330;178584329;178584328 | chr2:179449057;179449056;179449055 |
| 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 | None | None | 1.0 | D | 0.902 | 0.686 | 0.623049244626 | gnomAD-4.0.0 | 6.8842E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04932E-07 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.909 | 0.695 | 0.679497533952 | gnomAD-4.0.0 | 6.88514E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.05084E-07 | 0 | 0 |
| G/V | rs1389298806  |
-0.362 | 1.0 | D | 0.881 | 0.658 | 0.696713414085 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.67504E-04 |
| G/V | rs1389298806 |
-0.362 | 1.0 | D | 0.881 | 0.658 | 0.696713414085 | gnomAD-4.0.0 | 6.8842E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.66694E-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 | 0.8732 | likely_pathogenic | 0.8357 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.546743952 | None | None | I |
| G/C | 0.9646 | likely_pathogenic | 0.9469 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/D | 0.9759 | likely_pathogenic | 0.9619 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/E | 0.9866 | likely_pathogenic | 0.9791 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.546743952 | None | None | I |
| G/F | 0.9943 | likely_pathogenic | 0.9914 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/H | 0.9921 | likely_pathogenic | 0.9865 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/I | 0.993 | likely_pathogenic | 0.9891 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/K | 0.986 | likely_pathogenic | 0.9787 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/L | 0.9912 | likely_pathogenic | 0.9864 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/M | 0.9948 | likely_pathogenic | 0.9923 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/N | 0.9798 | likely_pathogenic | 0.9658 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/Q | 0.9795 | likely_pathogenic | 0.9701 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/R | 0.9661 | likely_pathogenic | 0.9506 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.540414076 | None | None | I |
| G/S | 0.8236 | likely_pathogenic | 0.753 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/T | 0.9661 | likely_pathogenic | 0.9509 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/V | 0.9841 | likely_pathogenic | 0.9756 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.526677914 | None | None | I |
| G/W | 0.9945 | likely_pathogenic | 0.9904 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/Y | 0.9926 | likely_pathogenic | 0.9885 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.887 | 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.