Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33130 | 99613;99614;99615 | chr2:178537819;178537818;178537817 | chr2:179402546;179402545;179402544 |
| N2AB | 31489 | 94690;94691;94692 | chr2:178537819;178537818;178537817 | chr2:179402546;179402545;179402544 |
| N2A | 30562 | 91909;91910;91911 | chr2:178537819;178537818;178537817 | chr2:179402546;179402545;179402544 |
| N2B | 24065 | 72418;72419;72420 | chr2:178537819;178537818;178537817 | chr2:179402546;179402545;179402544 |
| Novex-1 | 24190 | 72793;72794;72795 | chr2:178537819;178537818;178537817 | chr2:179402546;179402545;179402544 |
| Novex-2 | 24257 | 72994;72995;72996 | chr2:178537819;178537818;178537817 | chr2:179402546;179402545;179402544 |
| 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/S | rs1692281859  |
None | 1.0 | D | 0.821 | 0.647 | 0.637981554935 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6709 | likely_pathogenic | 0.7874 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.522054148 | None | None | N |
| P/C | 0.9766 | likely_pathogenic | 0.9865 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.368 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/E | 0.9974 | likely_pathogenic | 0.9978 | pathogenic | -2.339 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/F | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/G | 0.9786 | likely_pathogenic | 0.9863 | pathogenic | -2.141 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/H | 0.9965 | likely_pathogenic | 0.9967 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.580027444 | None | None | N |
| P/I | 0.9807 | likely_pathogenic | 0.9855 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/L | 0.9413 | likely_pathogenic | 0.9494 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.545497093 | None | None | N |
| P/M | 0.9886 | likely_pathogenic | 0.9921 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/Q | 0.9943 | likely_pathogenic | 0.9949 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/R | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.579520465 | None | None | N |
| P/S | 0.9643 | likely_pathogenic | 0.9772 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.556300875 | None | None | N |
| P/T | 0.9513 | likely_pathogenic | 0.9675 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.534411185 | None | None | N |
| P/V | 0.9429 | likely_pathogenic | 0.9595 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.798 | 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.