Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32421 | 97486;97487;97488 | chr2:178542495;178542494;178542493 | chr2:179407222;179407221;179407220 |
| N2AB | 30780 | 92563;92564;92565 | chr2:178542495;178542494;178542493 | chr2:179407222;179407221;179407220 |
| N2A | 29853 | 89782;89783;89784 | chr2:178542495;178542494;178542493 | chr2:179407222;179407221;179407220 |
| N2B | 23356 | 70291;70292;70293 | chr2:178542495;178542494;178542493 | chr2:179407222;179407221;179407220 |
| Novex-1 | 23481 | 70666;70667;70668 | chr2:178542495;178542494;178542493 | chr2:179407222;179407221;179407220 |
| Novex-2 | 23548 | 70867;70868;70869 | chr2:178542495;178542494;178542493 | chr2:179407222;179407221;179407220 |
| 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 | None | None | 1.0 | D | 0.842 | 0.743 | 0.909722871612 | gnomAD-4.0.0 | 3.1876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77762E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9976 | likely_pathogenic | 0.9958 | pathogenic | -3.287 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/C | 0.9979 | likely_pathogenic | 0.9966 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.699975923 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.705 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.589 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/F | 0.81 | likely_pathogenic | 0.804 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/G | 0.9902 | likely_pathogenic | 0.9833 | pathogenic | -3.526 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.699975923 | None | None | N |
| W/H | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -2.536 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/I | 0.9953 | likely_pathogenic | 0.9928 | pathogenic | -2.357 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.644 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/L | 0.9877 | likely_pathogenic | 0.9808 | pathogenic | -2.357 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.654502011 | None | None | N |
| W/M | 0.9962 | likely_pathogenic | 0.9942 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.366 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.207 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.699975923 | None | None | N |
| W/S | 0.9963 | likely_pathogenic | 0.9937 | pathogenic | -3.483 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.699975923 | None | None | N |
| W/T | 0.9979 | likely_pathogenic | 0.9963 | pathogenic | -3.292 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/V | 0.9948 | likely_pathogenic | 0.9911 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/Y | 0.9731 | likely_pathogenic | 0.9667 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.801 | 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.