Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18507 | 55744;55745;55746 | chr2:178601478;178601477;178601476 | chr2:179466205;179466204;179466203 |
| N2AB | 16866 | 50821;50822;50823 | chr2:178601478;178601477;178601476 | chr2:179466205;179466204;179466203 |
| N2A | 15939 | 48040;48041;48042 | chr2:178601478;178601477;178601476 | chr2:179466205;179466204;179466203 |
| N2B | 9442 | 28549;28550;28551 | chr2:178601478;178601477;178601476 | chr2:179466205;179466204;179466203 |
| Novex-1 | 9567 | 28924;28925;28926 | chr2:178601478;178601477;178601476 | chr2:179466205;179466204;179466203 |
| Novex-2 | 9634 | 29125;29126;29127 | chr2:178601478;178601477;178601476 | chr2:179466205;179466204;179466203 |
| 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/E | rs794727388  |
None | 1.0 | N | 0.851 | 0.642 | 0.49376247819 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 1.2068E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs794727388 |
None | 1.0 | N | 0.851 | 0.642 | 0.49376247819 | gnomAD-4.0.0 | 4.34005E-06 | None | None | None | None | I | None | 8.01603E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47941E-07 | 0 | 0 |
| G/R | rs749948987 |
-0.452 | 1.0 | N | 0.829 | 0.632 | 0.430351802785 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs749948987 |
-0.452 | 1.0 | N | 0.829 | 0.632 | 0.430351802785 | gnomAD-4.0.0 | 1.59295E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86154E-06 | 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 | 0.9587 | likely_pathogenic | 0.9597 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.502995392 | None | None | I |
| G/C | 0.9916 | likely_pathogenic | 0.9907 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/D | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/E | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.507007863 | None | None | I |
| G/F | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/H | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/I | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/L | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.9985 | likely_pathogenic | 0.9976 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/Q | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/R | 0.9955 | likely_pathogenic | 0.9945 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.490398092 | None | None | I |
| G/S | 0.9723 | likely_pathogenic | 0.965 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/T | 0.9972 | likely_pathogenic | 0.9967 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.51527675 | None | None | I |
| G/W | 0.9985 | likely_pathogenic | 0.9979 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/Y | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.782 | 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.