Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21977 | 66154;66155;66156 | chr2:178582527;178582526;178582525 | chr2:179447254;179447253;179447252 |
| N2AB | 20336 | 61231;61232;61233 | chr2:178582527;178582526;178582525 | chr2:179447254;179447253;179447252 |
| N2A | 19409 | 58450;58451;58452 | chr2:178582527;178582526;178582525 | chr2:179447254;179447253;179447252 |
| N2B | 12912 | 38959;38960;38961 | chr2:178582527;178582526;178582525 | chr2:179447254;179447253;179447252 |
| Novex-1 | 13037 | 39334;39335;39336 | chr2:178582527;178582526;178582525 | chr2:179447254;179447253;179447252 |
| Novex-2 | 13104 | 39535;39536;39537 | chr2:178582527;178582526;178582525 | chr2:179447254;179447253;179447252 |
| 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/S | None | None | 1.0 | D | 0.889 | 0.871 | 0.953264484425 | gnomAD-4.0.0 | 6.84578E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99826E-07 | 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 | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -3.166 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/C | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.822 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.67763278 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.438 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.312 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/F | 0.8708 | likely_pathogenic | 0.8493 | pathogenic | -1.918 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/G | 0.9931 | likely_pathogenic | 0.9916 | pathogenic | -3.417 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.67763278 | None | None | N |
| W/H | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.472 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/I | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.431 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/L | 0.9951 | likely_pathogenic | 0.9943 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.676623758 | None | None | N |
| W/M | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.119 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.555 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.949 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.185 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.67763278 | None | None | N |
| W/S | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -3.291 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.661613419 | None | None | N |
| W/T | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.087 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/V | 0.998 | likely_pathogenic | 0.9973 | pathogenic | -2.555 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/Y | 0.9864 | likely_pathogenic | 0.9833 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.856 | 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.