Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3156 | 9691;9692;9693 | chr2:178767764;178767763;178767762 | chr2:179632491;179632490;179632489 |
| N2AB | 3156 | 9691;9692;9693 | chr2:178767764;178767763;178767762 | chr2:179632491;179632490;179632489 |
| N2A | 3156 | 9691;9692;9693 | chr2:178767764;178767763;178767762 | chr2:179632491;179632490;179632489 |
| N2B | 3110 | 9553;9554;9555 | chr2:178767764;178767763;178767762 | chr2:179632491;179632490;179632489 |
| Novex-1 | 3110 | 9553;9554;9555 | chr2:178767764;178767763;178767762 | chr2:179632491;179632490;179632489 |
| Novex-2 | 3110 | 9553;9554;9555 | chr2:178767764;178767763;178767762 | chr2:179632491;179632490;179632489 |
| Novex-3 | 3156 | 9691;9692;9693 | chr2:178767764;178767763;178767762 | chr2:179632491;179632490;179632489 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs1403999393  |
-1.16 | 0.982 | N | 0.577 | 0.414 | 0.723455425128 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| V/F | rs1403999393 |
-1.16 | 0.982 | N | 0.577 | 0.414 | 0.723455425128 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs1403999393 |
-1.16 | 0.982 | N | 0.577 | 0.414 | 0.723455425128 | gnomAD-4.0.0 | 6.57229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| V/I | None | None | 0.02 | N | 0.196 | 0.229 | 0.359963025489 | gnomAD-4.0.0 | 1.36826E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 8.9931E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6036 | likely_pathogenic | 0.6107 | pathogenic | -1.612 | Destabilizing | 0.863 | D | 0.467 | neutral | D | 0.562568901 | None | None | N |
| V/C | 0.9447 | likely_pathogenic | 0.9369 | pathogenic | -0.985 | Destabilizing | 0.999 | D | 0.542 | neutral | None | None | None | None | N |
| V/D | 0.8755 | likely_pathogenic | 0.8945 | pathogenic | -1.722 | Destabilizing | 0.997 | D | 0.708 | prob.delet. | D | 0.568300474 | None | None | N |
| V/E | 0.721 | likely_pathogenic | 0.7225 | pathogenic | -1.635 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| V/F | 0.4088 | ambiguous | 0.3902 | ambiguous | -0.993 | Destabilizing | 0.982 | D | 0.577 | neutral | N | 0.521890187 | None | None | N |
| V/G | 0.6675 | likely_pathogenic | 0.7221 | pathogenic | -2.019 | Highly Destabilizing | 0.997 | D | 0.684 | prob.neutral | D | 0.567440582 | None | None | N |
| V/H | 0.9358 | likely_pathogenic | 0.9229 | pathogenic | -1.715 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/I | 0.0896 | likely_benign | 0.0849 | benign | -0.549 | Destabilizing | 0.02 | N | 0.196 | neutral | N | 0.433098866 | None | None | N |
| V/K | 0.8347 | likely_pathogenic | 0.8341 | pathogenic | -1.424 | Destabilizing | 0.993 | D | 0.646 | neutral | None | None | None | None | N |
| V/L | 0.452 | ambiguous | 0.4131 | ambiguous | -0.549 | Destabilizing | 0.76 | D | 0.323 | neutral | N | 0.503294135 | None | None | N |
| V/M | 0.3097 | likely_benign | 0.2755 | benign | -0.431 | Destabilizing | 0.986 | D | 0.48 | neutral | None | None | None | None | N |
| V/N | 0.7969 | likely_pathogenic | 0.8053 | pathogenic | -1.337 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/P | 0.967 | likely_pathogenic | 0.9764 | pathogenic | -0.87 | Destabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | N |
| V/Q | 0.7755 | likely_pathogenic | 0.753 | pathogenic | -1.377 | Destabilizing | 0.998 | D | 0.646 | neutral | None | None | None | None | N |
| V/R | 0.8319 | likely_pathogenic | 0.8274 | pathogenic | -1.054 | Destabilizing | 0.998 | D | 0.71 | prob.delet. | None | None | None | None | N |
| V/S | 0.7601 | likely_pathogenic | 0.763 | pathogenic | -1.881 | Destabilizing | 0.993 | D | 0.594 | neutral | None | None | None | None | N |
| V/T | 0.5652 | likely_pathogenic | 0.5323 | ambiguous | -1.682 | Destabilizing | 0.953 | D | 0.441 | neutral | None | None | None | None | N |
| V/W | 0.9537 | likely_pathogenic | 0.9496 | pathogenic | -1.368 | Destabilizing | 0.999 | D | 0.652 | neutral | None | None | None | None | N |
| V/Y | 0.8476 | likely_pathogenic | 0.8378 | pathogenic | -1.023 | Destabilizing | 0.998 | D | 0.583 | neutral | None | None | None | None | N |
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.