Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17946 | 54061;54062;54063 | chr2:178605459;178605458;178605457 | chr2:179470186;179470185;179470184 |
| N2AB | 16305 | 49138;49139;49140 | chr2:178605459;178605458;178605457 | chr2:179470186;179470185;179470184 |
| N2A | 15378 | 46357;46358;46359 | chr2:178605459;178605458;178605457 | chr2:179470186;179470185;179470184 |
| N2B | 8881 | 26866;26867;26868 | chr2:178605459;178605458;178605457 | chr2:179470186;179470185;179470184 |
| Novex-1 | 9006 | 27241;27242;27243 | chr2:178605459;178605458;178605457 | chr2:179470186;179470185;179470184 |
| Novex-2 | 9073 | 27442;27443;27444 | chr2:178605459;178605458;178605457 | chr2:179470186;179470185;179470184 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1283273656  |
-1.462 | 0.999 | D | 0.737 | 0.341 | 0.366659145958 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs1283273656 |
-1.044 | 0.999 | N | 0.737 | 0.373 | 0.350307294319 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12461E-04 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs1283273656 |
-1.044 | 0.999 | N | 0.737 | 0.373 | 0.350307294319 | gnomAD-4.0.0 | 1.59761E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78598E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4902 | ambiguous | 0.4403 | ambiguous | -0.752 | Destabilizing | 0.998 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/C | 0.8249 | likely_pathogenic | 0.7684 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.524760178 | None | None | N |
| S/D | 0.9815 | likely_pathogenic | 0.9755 | pathogenic | -1.727 | Destabilizing | 0.999 | D | 0.776 | deleterious | None | None | None | None | N |
| S/E | 0.9944 | likely_pathogenic | 0.9926 | pathogenic | -1.647 | Destabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | N |
| S/F | 0.9978 | likely_pathogenic | 0.9962 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| S/G | 0.1101 | likely_benign | 0.1143 | benign | -1.045 | Destabilizing | 0.999 | D | 0.754 | deleterious | N | 0.419941029 | None | None | N |
| S/H | 0.9929 | likely_pathogenic | 0.9894 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| S/I | 0.9962 | likely_pathogenic | 0.994 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.903 | deleterious | N | 0.513150383 | None | None | N |
| S/K | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -0.901 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| S/L | 0.9792 | likely_pathogenic | 0.9709 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| S/M | 0.9813 | likely_pathogenic | 0.9722 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| S/N | 0.9507 | likely_pathogenic | 0.925 | pathogenic | -1.282 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.52374622 | None | None | N |
| S/P | 0.997 | likely_pathogenic | 0.9958 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| S/Q | 0.9944 | likely_pathogenic | 0.9924 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| S/R | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.512643404 | None | None | N |
| S/T | 0.7937 | likely_pathogenic | 0.737 | pathogenic | -1.042 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | N | 0.511375956 | None | None | N |
| S/V | 0.9921 | likely_pathogenic | 0.9872 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| S/W | 0.997 | likely_pathogenic | 0.9955 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| S/Y | 0.9947 | likely_pathogenic | 0.9915 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.903 | deleterious | 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.