Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16780 | 50563;50564;50565 | chr2:178612073;178612072;178612071 | chr2:179476800;179476799;179476798 |
| N2AB | 15139 | 45640;45641;45642 | chr2:178612073;178612072;178612071 | chr2:179476800;179476799;179476798 |
| N2A | 14212 | 42859;42860;42861 | chr2:178612073;178612072;178612071 | chr2:179476800;179476799;179476798 |
| N2B | 7715 | 23368;23369;23370 | chr2:178612073;178612072;178612071 | chr2:179476800;179476799;179476798 |
| Novex-1 | 7840 | 23743;23744;23745 | chr2:178612073;178612072;178612071 | chr2:179476800;179476799;179476798 |
| Novex-2 | 7907 | 23944;23945;23946 | chr2:178612073;178612072;178612071 | chr2:179476800;179476799;179476798 |
| 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/A | rs1389467681  |
-0.088 | 1.0 | D | 0.625 | 0.448 | 0.364926071151 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs1389467681 |
-0.088 | 1.0 | D | 0.625 | 0.448 | 0.364926071151 | gnomAD-4.0.0 | 1.59825E-06 | None | None | None | None | I | None | 0 | 2.30213E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8376 | likely_pathogenic | 0.9187 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.625 | neutral | D | 0.549804807 | None | None | I |
| G/C | 0.907 | likely_pathogenic | 0.968 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/D | 0.9424 | likely_pathogenic | 0.9807 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/E | 0.9572 | likely_pathogenic | 0.9857 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.646906768 | None | None | I |
| G/F | 0.9825 | likely_pathogenic | 0.9935 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/H | 0.966 | likely_pathogenic | 0.9909 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/I | 0.9808 | likely_pathogenic | 0.9926 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9691 | likely_pathogenic | 0.9905 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/L | 0.9617 | likely_pathogenic | 0.9863 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.9784 | likely_pathogenic | 0.9924 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.8865 | likely_pathogenic | 0.964 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/P | 0.9979 | likely_pathogenic | 0.9989 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Q | 0.9329 | likely_pathogenic | 0.9791 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/R | 0.9368 | likely_pathogenic | 0.9782 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.627113414 | None | None | I |
| G/S | 0.6543 | likely_pathogenic | 0.8328 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/T | 0.937 | likely_pathogenic | 0.9781 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/V | 0.9697 | likely_pathogenic | 0.9883 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.733428146 | None | None | I |
| G/W | 0.9782 | likely_pathogenic | 0.9914 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.974 | likely_pathogenic | 0.9913 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.781 | 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.