Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25567 | 76924;76925;76926 | chr2:178569433;178569432;178569431 | chr2:179434160;179434159;179434158 |
| N2AB | 23926 | 72001;72002;72003 | chr2:178569433;178569432;178569431 | chr2:179434160;179434159;179434158 |
| N2A | 22999 | 69220;69221;69222 | chr2:178569433;178569432;178569431 | chr2:179434160;179434159;179434158 |
| N2B | 16502 | 49729;49730;49731 | chr2:178569433;178569432;178569431 | chr2:179434160;179434159;179434158 |
| Novex-1 | 16627 | 50104;50105;50106 | chr2:178569433;178569432;178569431 | chr2:179434160;179434159;179434158 |
| Novex-2 | 16694 | 50305;50306;50307 | chr2:178569433;178569432;178569431 | chr2:179434160;179434159;179434158 |
| 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/F | rs3813244  |
-1.217 | 1.0 | D | 0.793 | 0.379 | None | gnomAD-2.1.1 | 2.07653E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.99E-03 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs3813244 |
-1.217 | 1.0 | D | 0.793 | 0.379 | None | gnomAD-3.1.2 | 1.18356E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.48297E-03 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs3813244 |
-1.217 | 1.0 | D | 0.793 | 0.379 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 3E-03 | 0 | None | None | None | 0 | None |
| V/F | rs3813244 |
-1.217 | 1.0 | D | 0.793 | 0.379 | None | gnomAD-4.0.0 | 1.45048E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.1832E-03 | None | 0 | 0 | 0 | 0 | 3.20205E-05 |
| V/I | None | None | 0.997 | N | 0.5 | 0.195 | 0.66885242914 | gnomAD-4.0.0 | 6.84436E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.525E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3906 | ambiguous | 0.3979 | ambiguous | -1.599 | Destabilizing | 0.999 | D | 0.569 | neutral | D | 0.530802063 | None | None | N |
| V/C | 0.8166 | likely_pathogenic | 0.8278 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| V/D | 0.7598 | likely_pathogenic | 0.7589 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.513711766 | None | None | N |
| V/E | 0.5516 | ambiguous | 0.5531 | ambiguous | -1.279 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/F | 0.2412 | likely_benign | 0.2548 | benign | -1.06 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.532558112 | None | None | N |
| V/G | 0.4707 | ambiguous | 0.4701 | ambiguous | -1.98 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.520713205 | None | None | N |
| V/H | 0.678 | likely_pathogenic | 0.6972 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| V/I | 0.0836 | likely_benign | 0.0851 | benign | -0.63 | Destabilizing | 0.997 | D | 0.5 | neutral | N | 0.512566842 | None | None | N |
| V/K | 0.6312 | likely_pathogenic | 0.6392 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| V/L | 0.2356 | likely_benign | 0.2498 | benign | -0.63 | Destabilizing | 0.997 | D | 0.545 | neutral | N | 0.504198075 | None | None | N |
| V/M | 0.1892 | likely_benign | 0.2066 | benign | -0.647 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/N | 0.4912 | ambiguous | 0.4976 | ambiguous | -1.206 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/P | 0.9787 | likely_pathogenic | 0.9794 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/Q | 0.4414 | ambiguous | 0.4557 | ambiguous | -1.289 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| V/R | 0.5787 | likely_pathogenic | 0.5887 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| V/S | 0.3621 | ambiguous | 0.3759 | ambiguous | -1.842 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| V/T | 0.2938 | likely_benign | 0.2876 | benign | -1.661 | Destabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | N |
| V/W | 0.8957 | likely_pathogenic | 0.909 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/Y | 0.6597 | likely_pathogenic | 0.6928 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.796 | 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.