Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25629 | 77110;77111;77112 | chr2:178569247;178569246;178569245 | chr2:179433974;179433973;179433972 |
| N2AB | 23988 | 72187;72188;72189 | chr2:178569247;178569246;178569245 | chr2:179433974;179433973;179433972 |
| N2A | 23061 | 69406;69407;69408 | chr2:178569247;178569246;178569245 | chr2:179433974;179433973;179433972 |
| N2B | 16564 | 49915;49916;49917 | chr2:178569247;178569246;178569245 | chr2:179433974;179433973;179433972 |
| Novex-1 | 16689 | 50290;50291;50292 | chr2:178569247;178569246;178569245 | chr2:179433974;179433973;179433972 |
| Novex-2 | 16756 | 50491;50492;50493 | chr2:178569247;178569246;178569245 | chr2:179433974;179433973;179433972 |
| 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/E | rs1707221923  |
None | 1.0 | D | 0.867 | 0.586 | None | gnomAD-4.0.0 | 1.37779E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03891E-07 | 1.18217E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9589 | likely_pathogenic | 0.9694 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.525049666 | None | None | I |
| G/C | 0.9914 | likely_pathogenic | 0.9933 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/D | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/E | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.556383104 | None | None | I |
| G/F | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/H | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/K | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/L | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/M | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/N | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/Q | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/R | 0.9963 | likely_pathogenic | 0.997 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.513439871 | None | None | I |
| G/S | 0.9626 | likely_pathogenic | 0.9729 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/T | 0.9958 | likely_pathogenic | 0.9969 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/V | 0.9973 | likely_pathogenic | 0.998 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.546547736 | None | None | I |
| G/W | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.55841102 | None | None | I |
| G/Y | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.815 | 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.