Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23850 | 71773;71774;71775 | chr2:178574584;178574583;178574582 | chr2:179439311;179439310;179439309 |
| N2AB | 22209 | 66850;66851;66852 | chr2:178574584;178574583;178574582 | chr2:179439311;179439310;179439309 |
| N2A | 21282 | 64069;64070;64071 | chr2:178574584;178574583;178574582 | chr2:179439311;179439310;179439309 |
| N2B | 14785 | 44578;44579;44580 | chr2:178574584;178574583;178574582 | chr2:179439311;179439310;179439309 |
| Novex-1 | 14910 | 44953;44954;44955 | chr2:178574584;178574583;178574582 | chr2:179439311;179439310;179439309 |
| Novex-2 | 14977 | 45154;45155;45156 | chr2:178574584;178574583;178574582 | chr2:179439311;179439310;179439309 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs996458558  |
None | 1.0 | D | 0.839 | 0.683 | 0.574465425021 | gnomAD-4.0.0 | 4.7903E-06 | None | None | None | None | N | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99588E-07 | 0 | 8.28473E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7787 | likely_pathogenic | 0.8186 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.585543826 | None | None | N |
| P/C | 0.9599 | likely_pathogenic | 0.9674 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/D | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/E | 0.9937 | likely_pathogenic | 0.9937 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/F | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/G | 0.9714 | likely_pathogenic | 0.9741 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/H | 0.9895 | likely_pathogenic | 0.989 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/I | 0.9763 | likely_pathogenic | 0.9841 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/K | 0.996 | likely_pathogenic | 0.9962 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/L | 0.927 | likely_pathogenic | 0.9398 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.638538087 | None | None | N |
| P/M | 0.9845 | likely_pathogenic | 0.9874 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/N | 0.9905 | likely_pathogenic | 0.9912 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/Q | 0.9895 | likely_pathogenic | 0.9898 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.607508387 | None | None | N |
| P/R | 0.99 | likely_pathogenic | 0.9898 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.597787832 | None | None | N |
| P/S | 0.9419 | likely_pathogenic | 0.9486 | pathogenic | -1.802 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.567960033 | None | None | N |
| P/T | 0.9229 | likely_pathogenic | 0.9404 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.601764991 | None | None | N |
| P/V | 0.9315 | likely_pathogenic | 0.9508 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/Y | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.899 | 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.