Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22435 | 67528;67529;67530 | chr2:178579984;178579983;178579982 | chr2:179444711;179444710;179444709 |
| N2AB | 20794 | 62605;62606;62607 | chr2:178579984;178579983;178579982 | chr2:179444711;179444710;179444709 |
| N2A | 19867 | 59824;59825;59826 | chr2:178579984;178579983;178579982 | chr2:179444711;179444710;179444709 |
| N2B | 13370 | 40333;40334;40335 | chr2:178579984;178579983;178579982 | chr2:179444711;179444710;179444709 |
| Novex-1 | 13495 | 40708;40709;40710 | chr2:178579984;178579983;178579982 | chr2:179444711;179444710;179444709 |
| Novex-2 | 13562 | 40909;40910;40911 | chr2:178579984;178579983;178579982 | chr2:179444711;179444710;179444709 |
| 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/V | None | None | 1.0 | D | 0.887 | 0.7 | 0.723402577445 | gnomAD-4.0.0 | 1.59243E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86025E-06 | 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 | 0.9564 | likely_pathogenic | 0.9604 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.574146462 | None | None | I |
| G/C | 0.9794 | likely_pathogenic | 0.9855 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.57541391 | None | None | I |
| G/D | 0.9891 | likely_pathogenic | 0.992 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.542813024 | None | None | I |
| G/E | 0.9939 | likely_pathogenic | 0.9952 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/F | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/H | 0.9962 | likely_pathogenic | 0.9972 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/I | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/K | 0.9957 | likely_pathogenic | 0.9966 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/L | 0.9958 | likely_pathogenic | 0.9964 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/M | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/N | 0.9919 | likely_pathogenic | 0.9929 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/Q | 0.9923 | likely_pathogenic | 0.9935 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/R | 0.9849 | likely_pathogenic | 0.9883 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.563132552 | None | None | I |
| G/S | 0.9167 | likely_pathogenic | 0.9321 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.547394927 | None | None | I |
| G/T | 0.9888 | likely_pathogenic | 0.9908 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | I |
| G/V | 0.9948 | likely_pathogenic | 0.9953 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.562625572 | None | None | I |
| G/W | 0.9958 | likely_pathogenic | 0.9974 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/Y | 0.9964 | likely_pathogenic | 0.9971 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.895 | 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.