Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32199 | 96820;96821;96822 | chr2:178543378;178543377;178543376 | chr2:179408105;179408104;179408103 |
| N2AB | 30558 | 91897;91898;91899 | chr2:178543378;178543377;178543376 | chr2:179408105;179408104;179408103 |
| N2A | 29631 | 89116;89117;89118 | chr2:178543378;178543377;178543376 | chr2:179408105;179408104;179408103 |
| N2B | 23134 | 69625;69626;69627 | chr2:178543378;178543377;178543376 | chr2:179408105;179408104;179408103 |
| Novex-1 | 23259 | 70000;70001;70002 | chr2:178543378;178543377;178543376 | chr2:179408105;179408104;179408103 |
| Novex-2 | 23326 | 70201;70202;70203 | chr2:178543378;178543377;178543376 | chr2:179408105;179408104;179408103 |
| 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 | None | None | 0.993 | N | 0.682 | 0.278 | 0.759168796882 | gnomAD-4.0.0 | 6.84192E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9945E-07 | 0 | 0 |
| V/G | rs1364825678  |
-3.48 | 0.999 | N | 0.773 | 0.464 | 0.81984923618 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| V/G | rs1364825678 |
-3.48 | 0.999 | N | 0.773 | 0.464 | 0.81984923618 | gnomAD-4.0.0 | 1.36838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7989E-06 | 0 | 0 |
| V/I | None | None | 0.355 | N | 0.267 | 0.117 | 0.438383285633 | gnomAD-4.0.0 | 6.84192E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9945E-07 | 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 | 0.3287 | likely_benign | 0.2809 | benign | -2.389 | Highly Destabilizing | 0.988 | D | 0.509 | neutral | N | 0.377985338 | None | None | N |
| V/C | 0.8582 | likely_pathogenic | 0.8294 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.665 | prob.neutral | None | None | None | None | N |
| V/D | 0.9878 | likely_pathogenic | 0.9822 | pathogenic | -3.128 | Highly Destabilizing | 0.999 | D | 0.766 | deleterious | N | 0.489581036 | None | None | N |
| V/E | 0.9766 | likely_pathogenic | 0.9655 | pathogenic | -2.883 | Highly Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/F | 0.7709 | likely_pathogenic | 0.7198 | pathogenic | -1.287 | Destabilizing | 0.993 | D | 0.682 | prob.neutral | N | 0.47847822 | None | None | N |
| V/G | 0.7326 | likely_pathogenic | 0.671 | pathogenic | -2.892 | Highly Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.512896837 | None | None | N |
| V/H | 0.9889 | likely_pathogenic | 0.9825 | pathogenic | -2.471 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| V/I | 0.1075 | likely_benign | 0.0964 | benign | -0.95 | Destabilizing | 0.355 | N | 0.267 | neutral | N | 0.436129564 | None | None | N |
| V/K | 0.9807 | likely_pathogenic | 0.9755 | pathogenic | -1.719 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/L | 0.422 | ambiguous | 0.3929 | ambiguous | -0.95 | Destabilizing | 0.114 | N | 0.323 | neutral | N | 0.474394377 | None | None | N |
| V/M | 0.6039 | likely_pathogenic | 0.5301 | ambiguous | -1.39 | Destabilizing | 0.995 | D | 0.599 | neutral | None | None | None | None | N |
| V/N | 0.9393 | likely_pathogenic | 0.9137 | pathogenic | -2.186 | Highly Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| V/P | 0.752 | likely_pathogenic | 0.7007 | pathogenic | -1.41 | Destabilizing | 0.999 | D | 0.695 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9634 | likely_pathogenic | 0.949 | pathogenic | -1.982 | Destabilizing | 0.999 | D | 0.698 | prob.delet. | None | None | None | None | N |
| V/R | 0.9557 | likely_pathogenic | 0.9501 | pathogenic | -1.637 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| V/S | 0.7122 | likely_pathogenic | 0.6351 | pathogenic | -2.724 | Highly Destabilizing | 0.999 | D | 0.692 | prob.delet. | None | None | None | None | N |
| V/T | 0.5844 | likely_pathogenic | 0.5423 | ambiguous | -2.345 | Highly Destabilizing | 0.991 | D | 0.605 | neutral | None | None | None | None | N |
| V/W | 0.9944 | likely_pathogenic | 0.9914 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.721 | deleterious | None | None | None | None | N |
| V/Y | 0.9764 | likely_pathogenic | 0.9671 | pathogenic | -1.452 | Destabilizing | 0.999 | D | 0.631 | 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.