Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18832 | 56719;56720;56721 | chr2:178599299;178599298;178599297 | chr2:179464026;179464025;179464024 |
| N2AB | 17191 | 51796;51797;51798 | chr2:178599299;178599298;178599297 | chr2:179464026;179464025;179464024 |
| N2A | 16264 | 49015;49016;49017 | chr2:178599299;178599298;178599297 | chr2:179464026;179464025;179464024 |
| N2B | 9767 | 29524;29525;29526 | chr2:178599299;178599298;178599297 | chr2:179464026;179464025;179464024 |
| Novex-1 | 9892 | 29899;29900;29901 | chr2:178599299;178599298;178599297 | chr2:179464026;179464025;179464024 |
| Novex-2 | 9959 | 30100;30101;30102 | chr2:178599299;178599298;178599297 | chr2:179464026;179464025;179464024 |
| 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/R | rs902705564  |
None | 1.0 | N | 0.778 | 0.606 | 0.780657852685 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/R | rs902705564 |
None | 1.0 | N | 0.778 | 0.606 | 0.780657852685 | gnomAD-4.0.0 | 6.57912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47098E-05 | 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 | 0.9927 | likely_pathogenic | 0.9834 | pathogenic | -2.971 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| W/C | 0.998 | likely_pathogenic | 0.9957 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.504187161 | None | None | N |
| W/D | 0.9989 | likely_pathogenic | 0.9975 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| W/E | 0.9992 | likely_pathogenic | 0.998 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/F | 0.7659 | likely_pathogenic | 0.6996 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| W/G | 0.9838 | likely_pathogenic | 0.9686 | pathogenic | -3.166 | Highly Destabilizing | 1.0 | D | 0.69 | prob.neutral | D | 0.541027554 | None | None | N |
| W/H | 0.996 | likely_pathogenic | 0.992 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/I | 0.9929 | likely_pathogenic | 0.9841 | pathogenic | -2.275 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9988 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| W/L | 0.9813 | likely_pathogenic | 0.9617 | pathogenic | -2.275 | Highly Destabilizing | 1.0 | D | 0.69 | prob.neutral | D | 0.540267086 | None | None | N |
| W/M | 0.9941 | likely_pathogenic | 0.9874 | pathogenic | -1.714 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/N | 0.9987 | likely_pathogenic | 0.997 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| W/P | 0.9962 | likely_pathogenic | 0.9919 | pathogenic | -2.522 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9987 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/R | 0.9988 | likely_pathogenic | 0.9972 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.518657338 | None | None | N |
| W/S | 0.9896 | likely_pathogenic | 0.9772 | pathogenic | -2.185 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.516629422 | None | None | N |
| W/T | 0.9943 | likely_pathogenic | 0.9853 | pathogenic | -2.074 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| W/V | 0.9899 | likely_pathogenic | 0.977 | pathogenic | -2.522 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| W/Y | 0.9316 | likely_pathogenic | 0.8927 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.611 | 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.