Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7163 | 21712;21713;21714 | chr2:178723613;178723612;178723611 | chr2:179588340;179588339;179588338 |
| N2AB | 6846 | 20761;20762;20763 | chr2:178723613;178723612;178723611 | chr2:179588340;179588339;179588338 |
| N2A | 5919 | 17980;17981;17982 | chr2:178723613;178723612;178723611 | chr2:179588340;179588339;179588338 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs370324138  |
0.115 | 0.991 | N | 0.673 | 0.264 | 0.534620942121 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 8.75E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs370324138 |
0.115 | 0.991 | N | 0.673 | 0.264 | 0.534620942121 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 2.62055E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs370324138 |
0.115 | 0.991 | N | 0.673 | 0.264 | 0.534620942121 | gnomAD-4.0.0 | 4.95995E-06 | None | None | None | None | I | None | 0 | 1.00157E-04 | None | 0 | 0 | None | 0 | 0 | 8.47836E-07 | 1.0997E-05 | 0 |
| T/N | rs370324138 |
-0.179 | 0.982 | N | 0.623 | 0.169 | 0.408172294925 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 8.93E-06 | 0 |
| T/N | rs370324138 |
-0.179 | 0.982 | N | 0.623 | 0.169 | 0.408172294925 | gnomAD-4.0.0 | 1.23219E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43952E-05 | 1.16128E-05 | 1.65793E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1425 | likely_benign | 0.1561 | benign | -0.418 | Destabilizing | 0.76 | D | 0.525 | neutral | N | 0.497464103 | None | None | I |
| T/C | 0.6895 | likely_pathogenic | 0.6892 | pathogenic | -0.327 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | I |
| T/D | 0.4797 | ambiguous | 0.471 | ambiguous | 0.118 | Stabilizing | 0.986 | D | 0.607 | neutral | None | None | None | None | I |
| T/E | 0.4452 | ambiguous | 0.462 | ambiguous | 0.083 | Stabilizing | 0.986 | D | 0.615 | neutral | None | None | None | None | I |
| T/F | 0.3374 | likely_benign | 0.3357 | benign | -0.752 | Destabilizing | 0.993 | D | 0.713 | prob.delet. | None | None | None | None | I |
| T/G | 0.3951 | ambiguous | 0.3961 | ambiguous | -0.598 | Destabilizing | 0.91 | D | 0.645 | neutral | None | None | None | None | I |
| T/H | 0.3711 | ambiguous | 0.3836 | ambiguous | -0.78 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | I |
| T/I | 0.3449 | ambiguous | 0.3528 | ambiguous | -0.049 | Destabilizing | 0.991 | D | 0.673 | neutral | N | 0.48879711 | None | None | I |
| T/K | 0.3461 | ambiguous | 0.3561 | ambiguous | -0.452 | Destabilizing | 0.986 | D | 0.613 | neutral | None | None | None | None | I |
| T/L | 0.1894 | likely_benign | 0.1917 | benign | -0.049 | Destabilizing | 0.953 | D | 0.643 | neutral | None | None | None | None | I |
| T/M | 0.1224 | likely_benign | 0.134 | benign | -0.105 | Destabilizing | 0.999 | D | 0.652 | neutral | None | None | None | None | I |
| T/N | 0.1566 | likely_benign | 0.1622 | benign | -0.267 | Destabilizing | 0.982 | D | 0.623 | neutral | N | 0.497464103 | None | None | I |
| T/P | 0.3723 | ambiguous | 0.3823 | ambiguous | -0.142 | Destabilizing | 0.991 | D | 0.673 | neutral | N | 0.509623616 | None | None | I |
| T/Q | 0.3301 | likely_benign | 0.3525 | ambiguous | -0.398 | Destabilizing | 0.993 | D | 0.666 | neutral | None | None | None | None | I |
| T/R | 0.2803 | likely_benign | 0.3063 | benign | -0.204 | Destabilizing | 0.986 | D | 0.667 | neutral | None | None | None | None | I |
| T/S | 0.1042 | likely_benign | 0.1031 | benign | -0.477 | Destabilizing | 0.17 | N | 0.28 | neutral | N | 0.44449641 | None | None | I |
| T/V | 0.2932 | likely_benign | 0.3002 | benign | -0.142 | Destabilizing | 0.953 | D | 0.631 | neutral | None | None | None | None | I |
| T/W | 0.6919 | likely_pathogenic | 0.6796 | pathogenic | -0.796 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | I |
| T/Y | 0.3852 | ambiguous | 0.3682 | ambiguous | -0.51 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | 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.