Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22725 | 68398;68399;68400 | chr2:178578857;178578856;178578855 | chr2:179443584;179443583;179443582 |
| N2AB | 21084 | 63475;63476;63477 | chr2:178578857;178578856;178578855 | chr2:179443584;179443583;179443582 |
| N2A | 20157 | 60694;60695;60696 | chr2:178578857;178578856;178578855 | chr2:179443584;179443583;179443582 |
| N2B | 13660 | 41203;41204;41205 | chr2:178578857;178578856;178578855 | chr2:179443584;179443583;179443582 |
| Novex-1 | 13785 | 41578;41579;41580 | chr2:178578857;178578856;178578855 | chr2:179443584;179443583;179443582 |
| Novex-2 | 13852 | 41779;41780;41781 | chr2:178578857;178578856;178578855 | chr2:179443584;179443583;179443582 |
| 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 | rs937009971  |
None | 1.0 | N | 0.753 | 0.725 | 0.439018943094 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs937009971 |
None | 1.0 | N | 0.753 | 0.725 | 0.439018943094 | gnomAD-4.0.0 | 6.57505E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4708E-05 | 0 | 0 |
| G/R | rs1261912310 |
-0.494 | 1.0 | D | 0.919 | 0.703 | 0.744122100345 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-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 | 0.8884 | likely_pathogenic | 0.9149 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.513085747 | None | None | I |
| G/C | 0.9502 | likely_pathogenic | 0.9656 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.548586695 | None | None | I |
| G/D | 0.9817 | likely_pathogenic | 0.9892 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.525202521 | None | None | I |
| G/E | 0.9885 | likely_pathogenic | 0.9927 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/F | 0.9928 | likely_pathogenic | 0.9942 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/H | 0.9905 | likely_pathogenic | 0.9937 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/I | 0.9917 | likely_pathogenic | 0.9936 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/K | 0.9927 | likely_pathogenic | 0.9951 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/L | 0.9904 | likely_pathogenic | 0.9923 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/M | 0.9946 | likely_pathogenic | 0.9962 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/N | 0.988 | likely_pathogenic | 0.9925 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/Q | 0.9834 | likely_pathogenic | 0.9883 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/R | 0.9696 | likely_pathogenic | 0.9792 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.547826227 | None | None | I |
| G/S | 0.8323 | likely_pathogenic | 0.8772 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.528961503 | None | None | I |
| G/T | 0.9712 | likely_pathogenic | 0.978 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/V | 0.9844 | likely_pathogenic | 0.9874 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.887 | deleterious | N | 0.515225341 | None | None | I |
| G/W | 0.9844 | likely_pathogenic | 0.9867 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Y | 0.9895 | likely_pathogenic | 0.992 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.89 | 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.