Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17616 | 53071;53072;53073 | chr2:178607941;178607940;178607939 | chr2:179472668;179472667;179472666 |
| N2AB | 15975 | 48148;48149;48150 | chr2:178607941;178607940;178607939 | chr2:179472668;179472667;179472666 |
| N2A | 15048 | 45367;45368;45369 | chr2:178607941;178607940;178607939 | chr2:179472668;179472667;179472666 |
| N2B | 8551 | 25876;25877;25878 | chr2:178607941;178607940;178607939 | chr2:179472668;179472667;179472666 |
| Novex-1 | 8676 | 26251;26252;26253 | chr2:178607941;178607940;178607939 | chr2:179472668;179472667;179472666 |
| Novex-2 | 8743 | 26452;26453;26454 | chr2:178607941;178607940;178607939 | chr2:179472668;179472667;179472666 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs755451227  |
-0.889 | 1.0 | N | 0.689 | 0.47 | 0.706650765395 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| W/C | rs755451227 |
-0.889 | 1.0 | N | 0.689 | 0.47 | 0.706650765395 | gnomAD-4.0.0 | 4.10696E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39868E-06 | 0 | 0 |
| W/L | rs2055319182 |
None | 1.0 | N | 0.664 | 0.479 | 0.778607210074 | gnomAD-4.0.0 | 1.59279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86141E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9843 | likely_pathogenic | 0.9824 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/C | 0.9962 | likely_pathogenic | 0.9946 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.501694129 | None | None | N |
| W/D | 0.9945 | likely_pathogenic | 0.9935 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/E | 0.9958 | likely_pathogenic | 0.9953 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| W/F | 0.6866 | likely_pathogenic | 0.6664 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| W/G | 0.9452 | likely_pathogenic | 0.9395 | pathogenic | -3.007 | Highly Destabilizing | 1.0 | D | 0.664 | neutral | N | 0.507428121 | None | None | N |
| W/H | 0.9893 | likely_pathogenic | 0.9882 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| W/I | 0.9777 | likely_pathogenic | 0.9736 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| W/K | 0.9975 | likely_pathogenic | 0.9969 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| W/L | 0.9595 | likely_pathogenic | 0.9529 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.664 | neutral | N | 0.494804367 | None | None | N |
| W/M | 0.9859 | likely_pathogenic | 0.9825 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| W/N | 0.9934 | likely_pathogenic | 0.9921 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/P | 0.9904 | likely_pathogenic | 0.9876 | pathogenic | -2.39 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/Q | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/R | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.507174631 | None | None | N |
| W/S | 0.9771 | likely_pathogenic | 0.9752 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.506667652 | None | None | N |
| W/T | 0.9828 | likely_pathogenic | 0.98 | pathogenic | -1.838 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/V | 0.9764 | likely_pathogenic | 0.9714 | pathogenic | -2.39 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8769 | likely_pathogenic | 0.8635 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.574 | neutral | 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.