Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19708 | 59347;59348;59349 | chr2:178592997;178592996;178592995 | chr2:179457724;179457723;179457722 |
| N2AB | 18067 | 54424;54425;54426 | chr2:178592997;178592996;178592995 | chr2:179457724;179457723;179457722 |
| N2A | 17140 | 51643;51644;51645 | chr2:178592997;178592996;178592995 | chr2:179457724;179457723;179457722 |
| N2B | 10643 | 32152;32153;32154 | chr2:178592997;178592996;178592995 | chr2:179457724;179457723;179457722 |
| Novex-1 | 10768 | 32527;32528;32529 | chr2:178592997;178592996;178592995 | chr2:179457724;179457723;179457722 |
| Novex-2 | 10835 | 32728;32729;32730 | chr2:178592997;178592996;178592995 | chr2:179457724;179457723;179457722 |
| 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 | None | None | 1.0 | D | 0.796 | 0.54 | 0.540334051544 | gnomAD-4.0.0 | 2.73731E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59831E-06 | 0 | 0 |
| G/S | rs1484810602  |
-0.622 | 1.0 | N | 0.796 | 0.485 | 0.374255764437 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1484810602 |
-0.622 | 1.0 | N | 0.796 | 0.485 | 0.374255764437 | gnomAD-4.0.0 | 6.84327E-07 | None | None | None | None | I | None | 0 | 2.23744E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.873 | likely_pathogenic | 0.8672 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.513159929 | None | None | I |
| G/C | 0.9534 | likely_pathogenic | 0.951 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.535000393 | None | None | I |
| G/D | 0.9845 | likely_pathogenic | 0.9838 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.514868222 | None | None | I |
| G/E | 0.9914 | likely_pathogenic | 0.9903 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/F | 0.9951 | likely_pathogenic | 0.9949 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.9916 | likely_pathogenic | 0.9911 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/I | 0.9945 | likely_pathogenic | 0.9936 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/K | 0.9907 | likely_pathogenic | 0.9888 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/L | 0.9927 | likely_pathogenic | 0.9924 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.9953 | likely_pathogenic | 0.9951 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.9765 | likely_pathogenic | 0.9805 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/Q | 0.9874 | likely_pathogenic | 0.9865 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/R | 0.9706 | likely_pathogenic | 0.9633 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.49158618 | None | None | I |
| G/S | 0.8177 | likely_pathogenic | 0.8192 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.51214597 | None | None | I |
| G/T | 0.9786 | likely_pathogenic | 0.9751 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/V | 0.9894 | likely_pathogenic | 0.9874 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.516642649 | None | None | I |
| G/W | 0.9898 | likely_pathogenic | 0.9878 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Y | 0.992 | likely_pathogenic | 0.9918 | pathogenic | -0.861 | 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.