Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17273 | 52042;52043;52044 | chr2:178609493;178609492;178609491 | chr2:179474220;179474219;179474218 |
| N2AB | 15632 | 47119;47120;47121 | chr2:178609493;178609492;178609491 | chr2:179474220;179474219;179474218 |
| N2A | 14705 | 44338;44339;44340 | chr2:178609493;178609492;178609491 | chr2:179474220;179474219;179474218 |
| N2B | 8208 | 24847;24848;24849 | chr2:178609493;178609492;178609491 | chr2:179474220;179474219;179474218 |
| Novex-1 | 8333 | 25222;25223;25224 | chr2:178609493;178609492;178609491 | chr2:179474220;179474219;179474218 |
| Novex-2 | 8400 | 25423;25424;25425 | chr2:178609493;178609492;178609491 | chr2:179474220;179474219;179474218 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | D | 0.832 | 0.821 | 0.795030053833 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9007 | likely_pathogenic | 0.8669 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.556500013 | None | None | I |
| G/C | 0.9847 | likely_pathogenic | 0.9809 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| G/D | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/E | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.610201487 | None | None | I |
| G/F | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/H | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| G/I | 0.9971 | likely_pathogenic | 0.9967 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/K | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/L | 0.9972 | likely_pathogenic | 0.9968 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/M | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| G/N | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/Q | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/R | 0.9967 | likely_pathogenic | 0.9962 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.613833963 | None | None | I |
| G/S | 0.9528 | likely_pathogenic | 0.9414 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/T | 0.9929 | likely_pathogenic | 0.9912 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/V | 0.9931 | likely_pathogenic | 0.9917 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.597814602 | None | None | I |
| G/W | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| G/Y | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
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.