Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31390 | 94393;94394;94395 | chr2:178547458;178547457;178547456 | chr2:179412185;179412184;179412183 |
| N2AB | 29749 | 89470;89471;89472 | chr2:178547458;178547457;178547456 | chr2:179412185;179412184;179412183 |
| N2A | 28822 | 86689;86690;86691 | chr2:178547458;178547457;178547456 | chr2:179412185;179412184;179412183 |
| N2B | 22325 | 67198;67199;67200 | chr2:178547458;178547457;178547456 | chr2:179412185;179412184;179412183 |
| Novex-1 | 22450 | 67573;67574;67575 | chr2:178547458;178547457;178547456 | chr2:179412185;179412184;179412183 |
| Novex-2 | 22517 | 67774;67775;67776 | chr2:178547458;178547457;178547456 | chr2:179412185;179412184;179412183 |
| 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/R | None | None | 1.0 | D | 0.918 | 0.663 | 0.831212772416 | gnomAD-4.0.0 | 6.85294E-07 | None | None | None | None | I | None | 2.99079E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs201188767  |
-0.771 | 1.0 | D | 0.859 | 0.697 | None | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.09E-06 | 0 |
| G/S | rs201188767 |
-0.771 | 1.0 | D | 0.859 | 0.697 | None | gnomAD-4.0.0 | 2.74118E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.602E-06 | 0 | 0 |
| G/V | rs1044190833 |
None | 1.0 | D | 0.895 | 0.675 | 0.905086445902 | gnomAD-4.0.0 | 1.597E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86854E-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 | 0.9482 | likely_pathogenic | 0.9257 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.553573445 | None | None | I |
| G/C | 0.9786 | likely_pathogenic | 0.971 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.554840893 | None | None | I |
| G/D | 0.9954 | likely_pathogenic | 0.9922 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.531456719 | None | None | I |
| G/E | 0.9968 | likely_pathogenic | 0.9953 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/F | 0.9962 | likely_pathogenic | 0.9952 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/H | 0.9968 | likely_pathogenic | 0.9951 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/I | 0.9965 | likely_pathogenic | 0.9954 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/K | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/L | 0.9936 | likely_pathogenic | 0.9927 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/M | 0.9979 | likely_pathogenic | 0.9971 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/N | 0.9962 | likely_pathogenic | 0.994 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/Q | 0.9946 | likely_pathogenic | 0.9923 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/R | 0.9902 | likely_pathogenic | 0.9879 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.542724119 | None | None | I |
| G/S | 0.9236 | likely_pathogenic | 0.8806 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.553319955 | None | None | I |
| G/T | 0.9895 | likely_pathogenic | 0.983 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/V | 0.9932 | likely_pathogenic | 0.9912 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.553573445 | None | None | I |
| G/W | 0.9912 | likely_pathogenic | 0.9901 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Y | 0.9955 | likely_pathogenic | 0.9943 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.898 | 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.