Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31800 | 95623;95624;95625 | chr2:178545838;178545837;178545836 | chr2:179410565;179410564;179410563 |
| N2AB | 30159 | 90700;90701;90702 | chr2:178545838;178545837;178545836 | chr2:179410565;179410564;179410563 |
| N2A | 29232 | 87919;87920;87921 | chr2:178545838;178545837;178545836 | chr2:179410565;179410564;179410563 |
| N2B | 22735 | 68428;68429;68430 | chr2:178545838;178545837;178545836 | chr2:179410565;179410564;179410563 |
| Novex-1 | 22860 | 68803;68804;68805 | chr2:178545838;178545837;178545836 | chr2:179410565;179410564;179410563 |
| Novex-2 | 22927 | 69004;69005;69006 | chr2:178545838;178545837;178545836 | chr2:179410565;179410564;179410563 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.025 | N | 0.445 | 0.23 | 0.465975295344 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93751E-06 | 0 | 0 |
| V/I | rs766203953  |
-0.398 | None | N | 0.058 | 0.099 | 0.206339911435 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs766203953 |
-0.398 | None | N | 0.058 | 0.099 | 0.206339911435 | gnomAD-4.0.0 | 3.184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86664E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2086 | likely_benign | 0.2014 | benign | -1.115 | Destabilizing | 0.025 | N | 0.445 | neutral | N | 0.503984644 | None | None | N |
| V/C | 0.6681 | likely_pathogenic | 0.6599 | pathogenic | -0.806 | Destabilizing | 0.869 | D | 0.491 | neutral | None | None | None | None | N |
| V/D | 0.596 | likely_pathogenic | 0.6075 | pathogenic | -0.876 | Destabilizing | 0.366 | N | 0.672 | prob.neutral | None | None | None | None | N |
| V/E | 0.3717 | ambiguous | 0.374 | ambiguous | -0.922 | Destabilizing | 0.303 | N | 0.589 | neutral | N | 0.482703815 | None | None | N |
| V/F | 0.1626 | likely_benign | 0.1785 | benign | -0.924 | Destabilizing | None | N | 0.387 | neutral | None | None | None | None | N |
| V/G | 0.4007 | ambiguous | 0.3932 | ambiguous | -1.373 | Destabilizing | 0.303 | N | 0.638 | neutral | N | 0.4945671 | None | None | N |
| V/H | 0.5669 | likely_pathogenic | 0.5633 | ambiguous | -0.877 | Destabilizing | 0.869 | D | 0.624 | neutral | None | None | None | None | N |
| V/I | 0.0603 | likely_benign | 0.0614 | benign | -0.536 | Destabilizing | None | N | 0.058 | neutral | N | 0.409591616 | None | None | N |
| V/K | 0.4049 | ambiguous | 0.3821 | ambiguous | -1.006 | Destabilizing | 0.366 | N | 0.581 | neutral | None | None | None | None | N |
| V/L | 0.1157 | likely_benign | 0.1249 | benign | -0.536 | Destabilizing | 0.002 | N | 0.262 | neutral | N | 0.407591461 | None | None | N |
| V/M | 0.1095 | likely_benign | 0.1145 | benign | -0.441 | Destabilizing | 0.221 | N | 0.51 | neutral | None | None | None | None | N |
| V/N | 0.3739 | ambiguous | 0.3689 | ambiguous | -0.743 | Destabilizing | 0.637 | D | 0.66 | prob.neutral | None | None | None | None | N |
| V/P | 0.6091 | likely_pathogenic | 0.6017 | pathogenic | -0.693 | Destabilizing | 0.637 | D | 0.634 | neutral | None | None | None | None | N |
| V/Q | 0.3473 | ambiguous | 0.339 | benign | -0.953 | Destabilizing | 0.637 | D | 0.572 | neutral | None | None | None | None | N |
| V/R | 0.3508 | ambiguous | 0.3434 | ambiguous | -0.44 | Destabilizing | 0.366 | N | 0.651 | prob.neutral | None | None | None | None | N |
| V/S | 0.2796 | likely_benign | 0.2756 | benign | -1.204 | Destabilizing | 0.141 | N | 0.565 | neutral | None | None | None | None | N |
| V/T | 0.142 | likely_benign | 0.1282 | benign | -1.145 | Destabilizing | 0.075 | N | 0.413 | neutral | None | None | None | None | N |
| V/W | 0.7295 | likely_pathogenic | 0.7504 | pathogenic | -1.056 | Destabilizing | 0.869 | D | 0.646 | neutral | None | None | None | None | N |
| V/Y | 0.4828 | ambiguous | 0.506 | ambiguous | -0.78 | Destabilizing | 0.039 | N | 0.558 | 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.