Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33277 | 100054;100055;100056 | chr2:178537378;178537377;178537376 | chr2:179402105;179402104;179402103 |
| N2AB | 31636 | 95131;95132;95133 | chr2:178537378;178537377;178537376 | chr2:179402105;179402104;179402103 |
| N2A | 30709 | 92350;92351;92352 | chr2:178537378;178537377;178537376 | chr2:179402105;179402104;179402103 |
| N2B | 24212 | 72859;72860;72861 | chr2:178537378;178537377;178537376 | chr2:179402105;179402104;179402103 |
| Novex-1 | 24337 | 73234;73235;73236 | chr2:178537378;178537377;178537376 | chr2:179402105;179402104;179402103 |
| Novex-2 | 24404 | 73435;73436;73437 | chr2:178537378;178537377;178537376 | chr2:179402105;179402104;179402103 |
| 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 | rs397517781  |
-0.484 | 1.0 | D | 0.763 | 0.813 | None | gnomAD-2.1.1 | 4.19E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.21E-06 | 0 |
| G/A | rs397517781 |
-0.484 | 1.0 | D | 0.763 | 0.813 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/A | rs397517781 |
-0.484 | 1.0 | D | 0.763 | 0.813 | None | gnomAD-4.0.0 | 8.15334E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.11266E-05 | 0 | 0 |
| G/E | rs397517781 |
-0.752 | 1.0 | D | 0.847 | 0.797 | 0.787362342877 | gnomAD-2.1.1 | 9.12967E-04 | None | None | None | None | I | None | 0 | 3.03E-05 | None | 0 | 0 | None | 7.64115E-03 | None | 0 | 9.21E-06 | 0 |
| G/E | rs397517781 |
-0.752 | 1.0 | D | 0.847 | 0.797 | 0.787362342877 | gnomAD-3.1.2 | 2.56508E-04 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 7.87075E-03 | 4.78011E-04 |
| G/E | rs397517781 |
-0.752 | 1.0 | D | 0.847 | 0.797 | 0.787362342877 | 1000 genomes | 1.79712E-03 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 9.2E-03 | None |
| G/E | rs397517781 |
-0.752 | 1.0 | D | 0.847 | 0.797 | 0.787362342877 | gnomAD-4.0.0 | 4.48402E-04 | None | None | None | None | I | None | 0 | 1.71145E-05 | None | 0 | 0 | None | 0 | 1.67056E-04 | 2.5677E-06 | 7.85555E-03 | 3.24602E-04 |
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 | 0.9011 | likely_pathogenic | 0.8835 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.579477184 | None | None | I |
| G/C | 0.961 | likely_pathogenic | 0.9641 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/D | 0.9464 | likely_pathogenic | 0.9584 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/E | 0.9779 | likely_pathogenic | 0.9763 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.529713924 | None | None | I |
| G/F | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/H | 0.9902 | likely_pathogenic | 0.9908 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/I | 0.9962 | likely_pathogenic | 0.9965 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/K | 0.9901 | likely_pathogenic | 0.9906 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/L | 0.9935 | likely_pathogenic | 0.9944 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/M | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/N | 0.9753 | likely_pathogenic | 0.9779 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| G/Q | 0.9803 | likely_pathogenic | 0.9794 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/R | 0.9706 | likely_pathogenic | 0.971 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.579678989 | None | None | I |
| G/S | 0.7866 | likely_pathogenic | 0.7985 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/T | 0.9766 | likely_pathogenic | 0.9789 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/V | 0.9908 | likely_pathogenic | 0.9914 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.580284402 | None | None | I |
| G/W | 0.9934 | likely_pathogenic | 0.9945 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/Y | 0.9949 | likely_pathogenic | 0.995 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.851 | 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.