Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26024 | 78295;78296;78297 | chr2:178568062;178568061;178568060 | chr2:179432789;179432788;179432787 |
| N2AB | 24383 | 73372;73373;73374 | chr2:178568062;178568061;178568060 | chr2:179432789;179432788;179432787 |
| N2A | 23456 | 70591;70592;70593 | chr2:178568062;178568061;178568060 | chr2:179432789;179432788;179432787 |
| N2B | 16959 | 51100;51101;51102 | chr2:178568062;178568061;178568060 | chr2:179432789;179432788;179432787 |
| Novex-1 | 17084 | 51475;51476;51477 | chr2:178568062;178568061;178568060 | chr2:179432789;179432788;179432787 |
| Novex-2 | 17151 | 51676;51677;51678 | chr2:178568062;178568061;178568060 | chr2:179432789;179432788;179432787 |
| 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/D | rs767272004  |
-2.58 | 1.0 | N | 0.848 | 0.683 | 0.556105722742 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66722E-04 |
| G/D | rs767272004 |
-2.58 | 1.0 | N | 0.848 | 0.683 | 0.556105722742 | gnomAD-4.0.0 | 9.55314E-06 | None | None | None | None | N | None | 0 | 1.14401E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02773E-05 |
| G/R | rs775212992 |
-1.202 | 1.0 | N | 0.88 | 0.615 | 0.707702219508 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| G/R | rs775212992 |
-1.202 | 1.0 | N | 0.88 | 0.615 | 0.707702219508 | gnomAD-4.0.0 | 9.55292E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71574E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.669 | likely_pathogenic | 0.7338 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.597 | neutral | N | 0.502887396 | None | None | N |
| G/C | 0.9147 | likely_pathogenic | 0.9324 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.517170217 | None | None | N |
| G/D | 0.9918 | likely_pathogenic | 0.9944 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.499026282 | None | None | N |
| G/E | 0.9951 | likely_pathogenic | 0.9966 | pathogenic | -2.319 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/F | 0.9944 | likely_pathogenic | 0.9957 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/H | 0.9926 | likely_pathogenic | 0.9946 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/I | 0.9952 | likely_pathogenic | 0.9965 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/K | 0.9963 | likely_pathogenic | 0.9975 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/L | 0.9928 | likely_pathogenic | 0.9947 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/M | 0.9955 | likely_pathogenic | 0.997 | pathogenic | -0.074 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/N | 0.9834 | likely_pathogenic | 0.9864 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Q | 0.9906 | likely_pathogenic | 0.9934 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/R | 0.9847 | likely_pathogenic | 0.9886 | pathogenic | -1.386 | Destabilizing | 1.0 | D | 0.88 | deleterious | N | 0.485579608 | None | None | N |
| G/S | 0.71 | likely_pathogenic | 0.7865 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.668 | neutral | N | 0.49239001 | None | None | N |
| G/T | 0.9707 | likely_pathogenic | 0.9818 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/V | 0.9898 | likely_pathogenic | 0.9924 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.53861538 | None | None | N |
| G/W | 0.991 | likely_pathogenic | 0.993 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Y | 0.9887 | likely_pathogenic | 0.9907 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.853 | 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.