Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1777 | 5554;5555;5556 | chr2:178776535;178776534;178776533 | chr2:179641262;179641261;179641260 |
| N2AB | 1777 | 5554;5555;5556 | chr2:178776535;178776534;178776533 | chr2:179641262;179641261;179641260 |
| N2A | 1777 | 5554;5555;5556 | chr2:178776535;178776534;178776533 | chr2:179641262;179641261;179641260 |
| N2B | 1731 | 5416;5417;5418 | chr2:178776535;178776534;178776533 | chr2:179641262;179641261;179641260 |
| Novex-1 | 1731 | 5416;5417;5418 | chr2:178776535;178776534;178776533 | chr2:179641262;179641261;179641260 |
| Novex-2 | 1731 | 5416;5417;5418 | chr2:178776535;178776534;178776533 | chr2:179641262;179641261;179641260 |
| Novex-3 | 1777 | 5554;5555;5556 | chr2:178776535;178776534;178776533 | chr2:179641262;179641261;179641260 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 1.0 | D | 0.88 | 0.87 | 0.888915657287 | gnomAD-4.0.0 | 1.59922E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.00924E-05 | 0 | 0 | 0 | 0 |
| C/R | rs2092247232  |
None | 1.0 | D | 0.892 | 0.908 | 0.89891181745 | gnomAD-4.0.0 | 6.85596E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99313E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.984 | likely_pathogenic | 0.9824 | pathogenic | -1.589 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | disulfide | None | N |
| C/E | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9898 | likely_pathogenic | 0.9914 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.830547728 | disulfide | None | N |
| C/G | 0.978 | likely_pathogenic | 0.9818 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.827855378 | disulfide | None | N |
| C/H | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9898 | likely_pathogenic | 0.9898 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | disulfide | None | N |
| C/K | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9676 | likely_pathogenic | 0.9686 | pathogenic | -0.614 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9938 | likely_pathogenic | 0.9941 | pathogenic | -0.02 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.827855378 | disulfide | None | N |
| C/S | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -2.093 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.795162343 | disulfide | None | N |
| C/T | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -1.664 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | disulfide | None | N |
| C/V | 0.9669 | likely_pathogenic | 0.9655 | pathogenic | -0.919 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.827855378 | disulfide | None | N |
| C/Y | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.828750226 | disulfide | 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.