Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24140 | 72643;72644;72645 | chr2:178573714;178573713;178573712 | chr2:179438441;179438440;179438439 |
| N2AB | 22499 | 67720;67721;67722 | chr2:178573714;178573713;178573712 | chr2:179438441;179438440;179438439 |
| N2A | 21572 | 64939;64940;64941 | chr2:178573714;178573713;178573712 | chr2:179438441;179438440;179438439 |
| N2B | 15075 | 45448;45449;45450 | chr2:178573714;178573713;178573712 | chr2:179438441;179438440;179438439 |
| Novex-1 | 15200 | 45823;45824;45825 | chr2:178573714;178573713;178573712 | chr2:179438441;179438440;179438439 |
| Novex-2 | 15267 | 46024;46025;46026 | chr2:178573714;178573713;178573712 | chr2:179438441;179438440;179438439 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 0.999 | N | 0.783 | 0.365 | 0.766026410875 | gnomAD-4.0.0 | 1.78194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.14485E-06 | 0 | 0 |
| C/R | rs768746312  |
-1.261 | 0.997 | N | 0.822 | 0.53 | 0.824865932375 | gnomAD-2.1.1 | 5.05E-06 | None | None | None | None | N | None | 0 | 3.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs768746312 |
-1.261 | 0.997 | N | 0.822 | 0.53 | 0.824865932375 | gnomAD-4.0.0 | 1.77973E-06 | None | None | None | None | N | None | 0 | 2.94516E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | None | None | 0.961 | N | 0.735 | 0.451 | 0.695778252972 | gnomAD-4.0.0 | 1.78194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.81738E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs879192818 |
None | 0.999 | N | 0.799 | 0.366 | None | gnomAD-4.0.0 | 5.34582E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.43456E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4843 | ambiguous | 0.5652 | pathogenic | -1.525 | Destabilizing | 0.469 | N | 0.334 | neutral | None | None | None | None | N |
| C/D | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -1.3 | Destabilizing | 0.998 | D | 0.826 | deleterious | None | None | None | None | N |
| C/E | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.068 | Destabilizing | 0.998 | D | 0.827 | deleterious | None | None | None | None | N |
| C/F | 0.8044 | likely_pathogenic | 0.8096 | pathogenic | -0.998 | Destabilizing | 0.999 | D | 0.783 | deleterious | N | 0.475578158 | None | None | N |
| C/G | 0.5419 | ambiguous | 0.611 | pathogenic | -1.891 | Destabilizing | 0.98 | D | 0.741 | deleterious | N | 0.504736003 | None | None | N |
| C/H | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -2.212 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| C/I | 0.6734 | likely_pathogenic | 0.6984 | pathogenic | -0.546 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.942 | Destabilizing | 0.998 | D | 0.822 | deleterious | None | None | None | None | N |
| C/L | 0.6888 | likely_pathogenic | 0.7027 | pathogenic | -0.546 | Destabilizing | 0.985 | D | 0.709 | prob.delet. | None | None | None | None | N |
| C/M | 0.7751 | likely_pathogenic | 0.7517 | pathogenic | None | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| C/N | 0.9895 | likely_pathogenic | 0.99 | pathogenic | -1.527 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| C/P | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.848 | Destabilizing | 0.998 | D | 0.83 | deleterious | None | None | None | None | N |
| C/Q | 0.9959 | likely_pathogenic | 0.9955 | pathogenic | -1.075 | Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| C/R | 0.9938 | likely_pathogenic | 0.9936 | pathogenic | -1.384 | Destabilizing | 0.997 | D | 0.822 | deleterious | N | 0.516092309 | None | None | N |
| C/S | 0.7306 | likely_pathogenic | 0.7913 | pathogenic | -1.833 | Destabilizing | 0.961 | D | 0.735 | prob.delet. | N | 0.486378259 | None | None | N |
| C/T | 0.7786 | likely_pathogenic | 0.8279 | pathogenic | -1.4 | Destabilizing | 0.985 | D | 0.753 | deleterious | None | None | None | None | N |
| C/V | 0.4747 | ambiguous | 0.5094 | ambiguous | -0.848 | Destabilizing | 0.985 | D | 0.735 | prob.delet. | None | None | None | None | N |
| C/W | 0.9892 | likely_pathogenic | 0.9879 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.516092309 | None | None | N |
| C/Y | 0.955 | likely_pathogenic | 0.9521 | pathogenic | -1.136 | Destabilizing | 0.999 | D | 0.799 | deleterious | N | 0.489340773 | 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.