Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32932 | 99019;99020;99021 | chr2:178539141;178539140;178539139 | chr2:179403868;179403867;179403866 |
| N2AB | 31291 | 94096;94097;94098 | chr2:178539141;178539140;178539139 | chr2:179403868;179403867;179403866 |
| N2A | 30364 | 91315;91316;91317 | chr2:178539141;178539140;178539139 | chr2:179403868;179403867;179403866 |
| N2B | 23867 | 71824;71825;71826 | chr2:178539141;178539140;178539139 | chr2:179403868;179403867;179403866 |
| Novex-1 | 23992 | 72199;72200;72201 | chr2:178539141;178539140;178539139 | chr2:179403868;179403867;179403866 |
| Novex-2 | 24059 | 72400;72401;72402 | chr2:178539141;178539140;178539139 | chr2:179403868;179403867;179403866 |
| 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/S | None | None | 1.0 | D | 0.839 | 0.84 | 0.903648619635 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -3.096 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| Y/C | 0.9688 | likely_pathogenic | 0.9636 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.62981404 | None | None | N |
| Y/D | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -3.425 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.64623701 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.194 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| Y/F | 0.4418 | ambiguous | 0.424 | ambiguous | -1.254 | Destabilizing | 0.999 | D | 0.639 | neutral | D | 0.548295682 | None | None | N |
| Y/G | 0.9945 | likely_pathogenic | 0.9945 | pathogenic | -3.51 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/H | 0.9938 | likely_pathogenic | 0.993 | pathogenic | -2.483 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.645833401 | None | None | N |
| Y/I | 0.9896 | likely_pathogenic | 0.9878 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| Y/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| Y/L | 0.9725 | likely_pathogenic | 0.974 | pathogenic | -1.697 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9941 | likely_pathogenic | 0.9941 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| Y/N | 0.9881 | likely_pathogenic | 0.988 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.64623701 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.183 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/Q | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.5 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| Y/R | 0.9982 | likely_pathogenic | 0.998 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/S | 0.9929 | likely_pathogenic | 0.9931 | pathogenic | -3.066 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.630217649 | None | None | N |
| Y/T | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -2.707 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/V | 0.9837 | likely_pathogenic | 0.9823 | pathogenic | -2.183 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| Y/W | 0.9198 | likely_pathogenic | 0.9106 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.759 | 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.