Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32134 | 96625;96626;96627 | chr2:178543573;178543572;178543571 | chr2:179408300;179408299;179408298 |
| N2AB | 30493 | 91702;91703;91704 | chr2:178543573;178543572;178543571 | chr2:179408300;179408299;179408298 |
| N2A | 29566 | 88921;88922;88923 | chr2:178543573;178543572;178543571 | chr2:179408300;179408299;179408298 |
| N2B | 23069 | 69430;69431;69432 | chr2:178543573;178543572;178543571 | chr2:179408300;179408299;179408298 |
| Novex-1 | 23194 | 69805;69806;69807 | chr2:178543573;178543572;178543571 | chr2:179408300;179408299;179408298 |
| Novex-2 | 23261 | 70006;70007;70008 | chr2:178543573;178543572;178543571 | chr2:179408300;179408299;179408298 |
| 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 | None | None | 1.0 | N | 0.808 | 0.48 | 0.653323239085 | gnomAD-4.0.0 | 1.60204E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43345E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8713 | likely_pathogenic | 0.8369 | pathogenic | -0.285 | Destabilizing | 0.998 | D | 0.619 | neutral | N | 0.483110846 | None | None | I |
| G/C | 0.9182 | likely_pathogenic | 0.8587 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/D | 0.9911 | likely_pathogenic | 0.9868 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/E | 0.9913 | likely_pathogenic | 0.9881 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.508749972 | None | None | I |
| G/F | 0.988 | likely_pathogenic | 0.9829 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.9931 | likely_pathogenic | 0.9891 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/I | 0.9864 | likely_pathogenic | 0.9823 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9951 | likely_pathogenic | 0.993 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/L | 0.9815 | likely_pathogenic | 0.9736 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/M | 0.9849 | likely_pathogenic | 0.9789 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.9794 | likely_pathogenic | 0.9699 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Q | 0.9884 | likely_pathogenic | 0.9825 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/R | 0.9851 | likely_pathogenic | 0.9775 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.493354742 | None | None | I |
| G/S | 0.8044 | likely_pathogenic | 0.7472 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/T | 0.9681 | likely_pathogenic | 0.9556 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/V | 0.9752 | likely_pathogenic | 0.9666 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.531120188 | None | None | I |
| G/W | 0.9885 | likely_pathogenic | 0.9827 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/Y | 0.9866 | likely_pathogenic | 0.9797 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
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.