Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21294 | 64105;64106;64107 | chr2:178587331;178587330;178587329 | chr2:179452058;179452057;179452056 |
| N2AB | 19653 | 59182;59183;59184 | chr2:178587331;178587330;178587329 | chr2:179452058;179452057;179452056 |
| N2A | 18726 | 56401;56402;56403 | chr2:178587331;178587330;178587329 | chr2:179452058;179452057;179452056 |
| N2B | 12229 | 36910;36911;36912 | chr2:178587331;178587330;178587329 | chr2:179452058;179452057;179452056 |
| Novex-1 | 12354 | 37285;37286;37287 | chr2:178587331;178587330;178587329 | chr2:179452058;179452057;179452056 |
| Novex-2 | 12421 | 37486;37487;37488 | chr2:178587331;178587330;178587329 | chr2:179452058;179452057;179452056 |
| 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/C | rs201119122  |
-0.999 | 1.0 | D | 0.797 | 0.49 | 0.717886206717 | gnomAD-4.0.0 | 6.84631E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99771E-07 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.829 | 0.497 | 0.436886369515 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.835 | 0.562 | 0.614513009211 | gnomAD-4.0.0 | 2.05389E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69931E-06 | 0 | 0 |
| G/S | rs201119122 |
-0.649 | 1.0 | N | 0.8 | 0.502 | None | gnomAD-2.1.1 | 4.46E-05 | None | None | None | None | I | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 8.08E-05 | 0 |
| G/S | rs201119122 |
-0.649 | 1.0 | N | 0.8 | 0.502 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs201119122 |
-0.649 | 1.0 | N | 0.8 | 0.502 | None | gnomAD-4.0.0 | 2.0464E-05 | None | None | None | None | I | None | 5.34674E-05 | 0 | None | 0 | 4.48612E-05 | None | 3.12715E-05 | 0 | 1.95023E-05 | 0 | 3.20544E-05 |
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 | 0.9524 | likely_pathogenic | 0.9577 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.523403825 | None | None | I |
| G/C | 0.9879 | likely_pathogenic | 0.9885 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.542775528 | None | None | I |
| G/D | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.505753642 | None | None | I |
| G/E | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/F | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/I | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/K | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/M | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Q | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/R | 0.9936 | likely_pathogenic | 0.9923 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.496652289 | None | None | I |
| G/S | 0.9494 | likely_pathogenic | 0.9561 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.506007132 | None | None | I |
| G/T | 0.9948 | likely_pathogenic | 0.9949 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/V | 0.9968 | likely_pathogenic | 0.9967 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.519391354 | None | None | I |
| G/W | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Y | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.792 | 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.