Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19045 | 57358;57359;57360 | chr2:178598037;178598036;178598035 | chr2:179462764;179462763;179462762 |
| N2AB | 17404 | 52435;52436;52437 | chr2:178598037;178598036;178598035 | chr2:179462764;179462763;179462762 |
| N2A | 16477 | 49654;49655;49656 | chr2:178598037;178598036;178598035 | chr2:179462764;179462763;179462762 |
| N2B | 9980 | 30163;30164;30165 | chr2:178598037;178598036;178598035 | chr2:179462764;179462763;179462762 |
| Novex-1 | 10105 | 30538;30539;30540 | chr2:178598037;178598036;178598035 | chr2:179462764;179462763;179462762 |
| Novex-2 | 10172 | 30739;30740;30741 | chr2:178598037;178598036;178598035 | chr2:179462764;179462763;179462762 |
| 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/R | rs900912009  |
-0.277 | 1.0 | N | 0.762 | 0.417 | 0.559961094632 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.98965E-04 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs900912009 |
-0.277 | 1.0 | N | 0.762 | 0.417 | 0.559961094632 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs900912009 |
-0.277 | 1.0 | N | 0.762 | 0.417 | 0.559961094632 | gnomAD-4.0.0 | 1.53893E-05 | None | None | None | None | N | None | 5.06928E-05 | 0 | None | 1.6372E-04 | 0 | None | 0 | 0 | 7.18497E-06 | 0 | 5.68731E-05 |
| G/V | rs1410477544 |
0.429 | 1.0 | N | 0.789 | 0.455 | 0.665216195492 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1410477544 |
0.429 | 1.0 | N | 0.789 | 0.455 | 0.665216195492 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1410477544 |
0.429 | 1.0 | N | 0.789 | 0.455 | 0.665216195492 | gnomAD-4.0.0 | 2.56519E-06 | None | None | None | None | N | None | 0 | 3.39236E-05 | 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 | 0.2539 | likely_benign | 0.2102 | benign | -0.316 | Destabilizing | 1.0 | D | 0.605 | neutral | N | 0.437423217 | None | None | N |
| G/C | 0.4536 | ambiguous | 0.3456 | ambiguous | -0.511 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/D | 0.6168 | likely_pathogenic | 0.4883 | ambiguous | -0.619 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/E | 0.613 | likely_pathogenic | 0.4749 | ambiguous | -0.613 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.432113398 | None | None | N |
| G/F | 0.8356 | likely_pathogenic | 0.7751 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/H | 0.814 | likely_pathogenic | 0.7293 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/I | 0.5996 | likely_pathogenic | 0.484 | ambiguous | 0.132 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/K | 0.8523 | likely_pathogenic | 0.7766 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/L | 0.7156 | likely_pathogenic | 0.6261 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/M | 0.7336 | likely_pathogenic | 0.6333 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/N | 0.5497 | ambiguous | 0.4656 | ambiguous | -0.63 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/P | 0.9609 | likely_pathogenic | 0.9445 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/Q | 0.7238 | likely_pathogenic | 0.6346 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/R | 0.7963 | likely_pathogenic | 0.7241 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.470783642 | None | None | N |
| G/S | 0.2051 | likely_benign | 0.1773 | benign | -0.895 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/T | 0.3625 | ambiguous | 0.2807 | benign | -0.786 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/V | 0.4433 | ambiguous | 0.3466 | ambiguous | 0.024 | Stabilizing | 1.0 | D | 0.789 | deleterious | N | 0.466804762 | None | None | N |
| G/W | 0.7877 | likely_pathogenic | 0.6981 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/Y | 0.7659 | likely_pathogenic | 0.6742 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
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.