Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31535 | 94828;94829;94830 | chr2:178546825;178546824;178546823 | chr2:179411552;179411551;179411550 |
| N2AB | 29894 | 89905;89906;89907 | chr2:178546825;178546824;178546823 | chr2:179411552;179411551;179411550 |
| N2A | 28967 | 87124;87125;87126 | chr2:178546825;178546824;178546823 | chr2:179411552;179411551;179411550 |
| N2B | 22470 | 67633;67634;67635 | chr2:178546825;178546824;178546823 | chr2:179411552;179411551;179411550 |
| Novex-1 | 22595 | 68008;68009;68010 | chr2:178546825;178546824;178546823 | chr2:179411552;179411551;179411550 |
| Novex-2 | 22662 | 68209;68210;68211 | chr2:178546825;178546824;178546823 | chr2:179411552;179411551;179411550 |
| 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/S | None | None | 1.0 | N | 0.731 | 0.469 | 0.435915822735 | gnomAD-4.0.0 | 6.8564E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73732E-04 | 0 | 0 | 0 |
| G/V | rs200302364  |
-0.242 | 1.0 | D | 0.799 | 0.501 | None | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | I | None | 1.2409E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs200302364 |
-0.242 | 1.0 | D | 0.799 | 0.501 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 1.44753E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs200302364 |
-0.242 | 1.0 | D | 0.799 | 0.501 | None | gnomAD-4.0.0 | 6.20706E-06 | None | None | None | None | I | None | 1.20228E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60534E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.846 | likely_pathogenic | 0.8558 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.504177615 | None | None | I |
| G/C | 0.9176 | likely_pathogenic | 0.9207 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.551061322 | None | None | I |
| G/D | 0.954 | likely_pathogenic | 0.9641 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.512193013 | None | None | I |
| G/E | 0.9707 | likely_pathogenic | 0.9775 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/F | 0.9835 | likely_pathogenic | 0.9819 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/H | 0.9767 | likely_pathogenic | 0.9764 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/I | 0.9739 | likely_pathogenic | 0.9758 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/K | 0.978 | likely_pathogenic | 0.9826 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/L | 0.9745 | likely_pathogenic | 0.9723 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/M | 0.9823 | likely_pathogenic | 0.9818 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.9248 | likely_pathogenic | 0.9274 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/P | 0.9967 | likely_pathogenic | 0.9965 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/Q | 0.9604 | likely_pathogenic | 0.964 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/R | 0.9474 | likely_pathogenic | 0.9551 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.52232155 | None | None | I |
| G/S | 0.6858 | likely_pathogenic | 0.6897 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.503568504 | None | None | I |
| G/T | 0.9343 | likely_pathogenic | 0.9359 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/V | 0.9632 | likely_pathogenic | 0.967 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.561403669 | None | None | I |
| G/W | 0.9803 | likely_pathogenic | 0.9787 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/Y | 0.9765 | likely_pathogenic | 0.9747 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.776 | 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.