Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24682 | 74269;74270;74271 | chr2:178572088;178572087;178572086 | chr2:179436815;179436814;179436813 |
| N2AB | 23041 | 69346;69347;69348 | chr2:178572088;178572087;178572086 | chr2:179436815;179436814;179436813 |
| N2A | 22114 | 66565;66566;66567 | chr2:178572088;178572087;178572086 | chr2:179436815;179436814;179436813 |
| N2B | 15617 | 47074;47075;47076 | chr2:178572088;178572087;178572086 | chr2:179436815;179436814;179436813 |
| Novex-1 | 15742 | 47449;47450;47451 | chr2:178572088;178572087;178572086 | chr2:179436815;179436814;179436813 |
| Novex-2 | 15809 | 47650;47651;47652 | chr2:178572088;178572087;178572086 | chr2:179436815;179436814;179436813 |
| 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 | rs879033144  |
None | 0.999 | N | 0.813 | 0.424 | 0.41921206133 | gnomAD-4.0.0 | 1.59246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85977E-06 | 0 | 0 |
| G/S | rs1708412775 |
None | 0.989 | N | 0.785 | 0.46 | 0.347879110917 | gnomAD-4.0.0 | 6.84449E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9963E-07 | 0 | 0 |
| G/V | rs879033144 |
-0.383 | 0.998 | D | 0.855 | 0.419 | 0.677090887034 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/V | rs879033144 |
-0.383 | 0.998 | D | 0.855 | 0.419 | 0.677090887034 | gnomAD-4.0.0 | 1.59246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-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 | 0.661 | likely_pathogenic | 0.6061 | pathogenic | -0.523 | Destabilizing | 0.926 | D | 0.653 | neutral | N | 0.491192376 | None | None | N |
| G/C | 0.759 | likely_pathogenic | 0.7279 | pathogenic | -0.92 | Destabilizing | 0.471 | N | 0.686 | prob.neutral | D | 0.549178899 | None | None | N |
| G/D | 0.5129 | ambiguous | 0.4846 | ambiguous | -0.959 | Destabilizing | 0.999 | D | 0.813 | deleterious | N | 0.484582558 | None | None | N |
| G/E | 0.7076 | likely_pathogenic | 0.6798 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/F | 0.9623 | likely_pathogenic | 0.949 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/H | 0.8647 | likely_pathogenic | 0.8444 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/I | 0.9737 | likely_pathogenic | 0.9653 | pathogenic | -0.441 | Destabilizing | 0.998 | D | 0.874 | deleterious | None | None | None | None | N |
| G/K | 0.9216 | likely_pathogenic | 0.9056 | pathogenic | -1.219 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| G/L | 0.9327 | likely_pathogenic | 0.9141 | pathogenic | -0.441 | Destabilizing | 0.997 | D | 0.849 | deleterious | None | None | None | None | N |
| G/M | 0.9264 | likely_pathogenic | 0.9047 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/N | 0.4262 | ambiguous | 0.4146 | ambiguous | -0.833 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/P | 0.9976 | likely_pathogenic | 0.9966 | pathogenic | -0.431 | Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | N |
| G/Q | 0.8208 | likely_pathogenic | 0.7945 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/R | 0.8858 | likely_pathogenic | 0.8633 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.513677951 | None | None | N |
| G/S | 0.3538 | ambiguous | 0.3246 | benign | -0.999 | Destabilizing | 0.989 | D | 0.785 | deleterious | N | 0.491330507 | None | None | N |
| G/T | 0.7541 | likely_pathogenic | 0.7081 | pathogenic | -1.057 | Destabilizing | 0.998 | D | 0.863 | deleterious | None | None | None | None | N |
| G/V | 0.9346 | likely_pathogenic | 0.913 | pathogenic | -0.431 | Destabilizing | 0.998 | D | 0.855 | deleterious | D | 0.530567665 | None | None | N |
| G/W | 0.8936 | likely_pathogenic | 0.8662 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/Y | 0.8912 | likely_pathogenic | 0.8624 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.869 | 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.