Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25525 | 76798;76799;76800 | chr2:178569559;178569558;178569557 | chr2:179434286;179434285;179434284 |
| N2AB | 23884 | 71875;71876;71877 | chr2:178569559;178569558;178569557 | chr2:179434286;179434285;179434284 |
| N2A | 22957 | 69094;69095;69096 | chr2:178569559;178569558;178569557 | chr2:179434286;179434285;179434284 |
| N2B | 16460 | 49603;49604;49605 | chr2:178569559;178569558;178569557 | chr2:179434286;179434285;179434284 |
| Novex-1 | 16585 | 49978;49979;49980 | chr2:178569559;178569558;178569557 | chr2:179434286;179434285;179434284 |
| Novex-2 | 16652 | 50179;50180;50181 | chr2:178569559;178569558;178569557 | chr2:179434286;179434285;179434284 |
| 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/D | rs1428374737  |
-0.583 | 0.999 | D | 0.815 | 0.738 | 0.66885242914 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1428374737 |
-0.583 | 0.999 | D | 0.815 | 0.738 | 0.66885242914 | gnomAD-4.0.0 | 1.5928E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.7835E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 0.992 | D | 0.755 | 0.862 | 0.630510301675 | gnomAD-4.0.0 | 1.59282E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02755E-05 |
| G/V | rs1428374737 |
None | 0.999 | D | 0.785 | 0.745 | 0.954238724321 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1428374737 |
None | 0.999 | D | 0.785 | 0.745 | 0.954238724321 | gnomAD-4.0.0 | 6.57869E-06 | None | None | None | None | I | None | 2.41441E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2819 | likely_benign | 0.2862 | benign | -0.305 | Destabilizing | 0.767 | D | 0.378 | neutral | D | 0.577160872 | None | None | I |
| G/C | 0.3373 | likely_benign | 0.361 | ambiguous | -0.911 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.556407137 | None | None | I |
| G/D | 0.6741 | likely_pathogenic | 0.689 | pathogenic | -0.515 | Destabilizing | 0.999 | D | 0.815 | deleterious | D | 0.561848723 | None | None | I |
| G/E | 0.6893 | likely_pathogenic | 0.7131 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/F | 0.8693 | likely_pathogenic | 0.8813 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.7102 | likely_pathogenic | 0.7357 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/I | 0.8534 | likely_pathogenic | 0.8551 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/K | 0.7328 | likely_pathogenic | 0.77 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/L | 0.7818 | likely_pathogenic | 0.7962 | pathogenic | -0.489 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | I |
| G/M | 0.7863 | likely_pathogenic | 0.7952 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.5394 | ambiguous | 0.5509 | ambiguous | -0.429 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/P | 0.9845 | likely_pathogenic | 0.9842 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Q | 0.609 | likely_pathogenic | 0.643 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/R | 0.5485 | ambiguous | 0.5917 | pathogenic | -0.288 | Destabilizing | 0.999 | D | 0.81 | deleterious | D | 0.630760546 | None | None | I |
| G/S | 0.1761 | likely_benign | 0.1726 | benign | -0.58 | Destabilizing | 0.992 | D | 0.755 | deleterious | D | 0.572780104 | None | None | I |
| G/T | 0.4542 | ambiguous | 0.4688 | ambiguous | -0.679 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | I |
| G/V | 0.7116 | likely_pathogenic | 0.7174 | pathogenic | -0.397 | Destabilizing | 0.999 | D | 0.785 | deleterious | D | 0.63096235 | None | None | I |
| G/W | 0.8076 | likely_pathogenic | 0.8176 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Y | 0.7837 | likely_pathogenic | 0.8016 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.815 | 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.