Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17609 | 53050;53051;53052 | chr2:178607962;178607961;178607960 | chr2:179472689;179472688;179472687 |
| N2AB | 15968 | 48127;48128;48129 | chr2:178607962;178607961;178607960 | chr2:179472689;179472688;179472687 |
| N2A | 15041 | 45346;45347;45348 | chr2:178607962;178607961;178607960 | chr2:179472689;179472688;179472687 |
| N2B | 8544 | 25855;25856;25857 | chr2:178607962;178607961;178607960 | chr2:179472689;179472688;179472687 |
| Novex-1 | 8669 | 26230;26231;26232 | chr2:178607962;178607961;178607960 | chr2:179472689;179472688;179472687 |
| Novex-2 | 8736 | 26431;26432;26433 | chr2:178607962;178607961;178607960 | chr2:179472689;179472688;179472687 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs777990934  |
-2.417 | 0.625 | N | 0.517 | 0.17 | 0.159798565429 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs777990934 |
-2.417 | 0.625 | N | 0.517 | 0.17 | 0.159798565429 | gnomAD-4.0.0 | 3.18572E-06 | None | None | None | None | N | None | 0 | 4.57561E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | None | None | 0.625 | N | 0.582 | 0.216 | 0.115124310173 | gnomAD-4.0.0 | 1.59286E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8613E-06 | 0 | 0 |
| Q/L | rs368820294 |
-1.206 | 0.891 | N | 0.625 | 0.232 | None | gnomAD-2.1.1 | 1.00062E-04 | None | None | None | None | N | None | 8.27E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.95502E-04 | 0 |
| Q/L | rs368820294 |
-1.206 | 0.891 | N | 0.625 | 0.232 | None | gnomAD-3.1.2 | 1.77681E-04 | None | None | None | None | N | None | 4.83E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 3.38634E-04 | 0 | 4.77555E-04 |
| Q/L | rs368820294 |
-1.206 | 0.891 | N | 0.625 | 0.232 | None | gnomAD-4.0.0 | 2.15749E-04 | None | None | None | None | N | None | 2.66773E-05 | 5.00384E-05 | None | 0 | 0 | None | 0 | 0 | 2.89155E-04 | 0 | 3.20328E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4639 | ambiguous | 0.4372 | ambiguous | -1.386 | Destabilizing | 0.688 | D | 0.579 | neutral | None | None | None | None | N |
| Q/C | 0.6682 | likely_pathogenic | 0.6139 | pathogenic | -0.692 | Destabilizing | 0.998 | D | 0.682 | prob.neutral | None | None | None | None | N |
| Q/D | 0.97 | likely_pathogenic | 0.9659 | pathogenic | -1.952 | Destabilizing | 0.525 | D | 0.559 | neutral | None | None | None | None | N |
| Q/E | 0.2635 | likely_benign | 0.2488 | benign | -1.662 | Destabilizing | 0.625 | D | 0.517 | neutral | N | 0.48636917 | None | None | N |
| Q/F | 0.9218 | likely_pathogenic | 0.9046 | pathogenic | -0.825 | Destabilizing | 0.991 | D | 0.698 | prob.neutral | None | None | None | None | N |
| Q/G | 0.7353 | likely_pathogenic | 0.6927 | pathogenic | -1.823 | Destabilizing | 0.728 | D | 0.607 | neutral | None | None | None | None | N |
| Q/H | 0.7458 | likely_pathogenic | 0.7109 | pathogenic | -1.35 | Destabilizing | 0.966 | D | 0.621 | neutral | N | 0.480560706 | None | None | N |
| Q/I | 0.7037 | likely_pathogenic | 0.6651 | pathogenic | -0.178 | Destabilizing | 0.974 | D | 0.695 | prob.neutral | None | None | None | None | N |
| Q/K | 0.2105 | likely_benign | 0.1895 | benign | -0.564 | Destabilizing | 0.625 | D | 0.582 | neutral | N | 0.393477652 | None | None | N |
| Q/L | 0.3039 | likely_benign | 0.2787 | benign | -0.178 | Destabilizing | 0.891 | D | 0.625 | neutral | N | 0.442253034 | None | None | N |
| Q/M | 0.4273 | ambiguous | 0.4102 | ambiguous | -0.015 | Destabilizing | 0.991 | D | 0.605 | neutral | None | None | None | None | N |
| Q/N | 0.8418 | likely_pathogenic | 0.8301 | pathogenic | -1.349 | Destabilizing | 0.007 | N | 0.188 | neutral | None | None | None | None | N |
| Q/P | 0.9695 | likely_pathogenic | 0.9633 | pathogenic | -0.557 | Destabilizing | 0.989 | D | 0.639 | neutral | N | 0.517558869 | None | None | N |
| Q/R | 0.2134 | likely_benign | 0.193 | benign | -0.746 | Destabilizing | 0.801 | D | 0.555 | neutral | N | 0.352727108 | None | None | N |
| Q/S | 0.7394 | likely_pathogenic | 0.7098 | pathogenic | -1.659 | Destabilizing | 0.525 | D | 0.574 | neutral | None | None | None | None | N |
| Q/T | 0.673 | likely_pathogenic | 0.636 | pathogenic | -1.187 | Destabilizing | 0.842 | D | 0.588 | neutral | None | None | None | None | N |
| Q/V | 0.4797 | ambiguous | 0.4422 | ambiguous | -0.557 | Destabilizing | 0.915 | D | 0.631 | neutral | None | None | None | None | N |
| Q/W | 0.9355 | likely_pathogenic | 0.9138 | pathogenic | -0.866 | Destabilizing | 0.998 | D | 0.645 | neutral | None | None | None | None | N |
| Q/Y | 0.8302 | likely_pathogenic | 0.798 | pathogenic | -0.496 | Destabilizing | 0.991 | D | 0.653 | neutral | 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.