Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16786 | 50581;50582;50583 | chr2:178611953;178611952;178611951 | chr2:179476680;179476679;179476678 |
| N2AB | 15145 | 45658;45659;45660 | chr2:178611953;178611952;178611951 | chr2:179476680;179476679;179476678 |
| N2A | 14218 | 42877;42878;42879 | chr2:178611953;178611952;178611951 | chr2:179476680;179476679;179476678 |
| N2B | 7721 | 23386;23387;23388 | chr2:178611953;178611952;178611951 | chr2:179476680;179476679;179476678 |
| Novex-1 | 7846 | 23761;23762;23763 | chr2:178611953;178611952;178611951 | chr2:179476680;179476679;179476678 |
| Novex-2 | 7913 | 23962;23963;23964 | chr2:178611953;178611952;178611951 | chr2:179476680;179476679;179476678 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs2056398658  |
None | 1.0 | D | 0.866 | 0.812 | 0.861436207318 | gnomAD-4.0.0 | 4.79912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.3013E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -3.838 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| Y/C | 0.9809 | likely_pathogenic | 0.9823 | pathogenic | -2.121 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.803419902 | None | None | N |
| Y/D | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -3.956 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.802454594 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.753 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/F | 0.4368 | ambiguous | 0.42 | ambiguous | -1.624 | Destabilizing | 0.999 | D | 0.686 | prob.neutral | D | 0.707190184 | None | None | N |
| Y/G | 0.9953 | likely_pathogenic | 0.9951 | pathogenic | -4.216 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/H | 0.9937 | likely_pathogenic | 0.9932 | pathogenic | -2.76 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.767970081 | None | None | N |
| Y/I | 0.9876 | likely_pathogenic | 0.9897 | pathogenic | -2.538 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.638 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| Y/L | 0.9665 | likely_pathogenic | 0.9727 | pathogenic | -2.538 | Highly Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| Y/M | 0.9933 | likely_pathogenic | 0.994 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/N | 0.9917 | likely_pathogenic | 0.9908 | pathogenic | -3.359 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.802454594 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.992 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| Y/Q | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.143 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/R | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -2.289 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/S | 0.9963 | likely_pathogenic | 0.9962 | pathogenic | -3.684 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.802454594 | None | None | N |
| Y/T | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -3.373 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/V | 0.979 | likely_pathogenic | 0.9823 | pathogenic | -2.992 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| Y/W | 0.9183 | likely_pathogenic | 0.9113 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.806 | 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.