Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32859 | 98800;98801;98802 | chr2:178539490;178539489;178539488 | chr2:179404217;179404216;179404215 |
| N2AB | 31218 | 93877;93878;93879 | chr2:178539490;178539489;178539488 | chr2:179404217;179404216;179404215 |
| N2A | 30291 | 91096;91097;91098 | chr2:178539490;178539489;178539488 | chr2:179404217;179404216;179404215 |
| N2B | 23794 | 71605;71606;71607 | chr2:178539490;178539489;178539488 | chr2:179404217;179404216;179404215 |
| Novex-1 | 23919 | 71980;71981;71982 | chr2:178539490;178539489;178539488 | chr2:179404217;179404216;179404215 |
| Novex-2 | 23986 | 72181;72182;72183 | chr2:178539490;178539489;178539488 | chr2:179404217;179404216;179404215 |
| 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/A | rs370747109  |
-0.023 | 0.991 | N | 0.627 | 0.332 | 0.180583059064 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/A | rs370747109 |
-0.023 | 0.991 | N | 0.627 | 0.332 | 0.180583059064 | gnomAD-4.0.0 | 2.73674E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.20291E-04 | 0 | 0 | 1.65645E-05 |
| G/D | rs370747109 |
-0.186 | 0.45 | N | 0.505 | 0.306 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs370747109 |
-0.186 | 0.45 | N | 0.505 | 0.306 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs370747109 |
-0.186 | 0.45 | N | 0.505 | 0.306 | None | gnomAD-4.0.0 | 1.85914E-06 | None | None | None | None | N | None | 2.67173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09794E-05 | 0 |
| G/S | rs747772240 |
-0.449 | 0.997 | N | 0.739 | 0.423 | 0.1749357433 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/S | rs747772240 |
-0.449 | 0.997 | N | 0.739 | 0.423 | 0.1749357433 | gnomAD-4.0.0 | 1.59114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85817E-06 | 0 | 0 |
| G/V | None | None | 0.999 | N | 0.777 | 0.487 | 0.670683552153 | gnomAD-4.0.0 | 6.84185E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99459E-07 | 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 | 0.4993 | ambiguous | 0.3794 | ambiguous | -0.244 | Destabilizing | 0.991 | D | 0.627 | neutral | N | 0.472006532 | None | None | N |
| G/C | 0.7333 | likely_pathogenic | 0.6153 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.509229 | None | None | N |
| G/D | 0.5949 | likely_pathogenic | 0.4578 | ambiguous | -0.239 | Destabilizing | 0.45 | N | 0.505 | neutral | N | 0.453787031 | None | None | N |
| G/E | 0.7645 | likely_pathogenic | 0.6226 | pathogenic | -0.356 | Destabilizing | 0.996 | D | 0.757 | deleterious | None | None | None | None | N |
| G/F | 0.9254 | likely_pathogenic | 0.8721 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/H | 0.8904 | likely_pathogenic | 0.8161 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/I | 0.8556 | likely_pathogenic | 0.7556 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/K | 0.9488 | likely_pathogenic | 0.9006 | pathogenic | -0.789 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/L | 0.8945 | likely_pathogenic | 0.8275 | pathogenic | -0.195 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| G/M | 0.8937 | likely_pathogenic | 0.8195 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/N | 0.5529 | ambiguous | 0.441 | ambiguous | -0.469 | Destabilizing | 0.996 | D | 0.749 | deleterious | None | None | None | None | N |
| G/P | 0.9792 | likely_pathogenic | 0.9696 | pathogenic | -0.175 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| G/Q | 0.875 | likely_pathogenic | 0.7917 | pathogenic | -0.66 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| G/R | 0.9193 | likely_pathogenic | 0.8551 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.502717129 | None | None | N |
| G/S | 0.3704 | ambiguous | 0.2665 | benign | -0.702 | Destabilizing | 0.997 | D | 0.739 | prob.delet. | N | 0.504986643 | None | None | N |
| G/T | 0.6571 | likely_pathogenic | 0.5138 | ambiguous | -0.73 | Destabilizing | 0.998 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/V | 0.7657 | likely_pathogenic | 0.6286 | pathogenic | -0.175 | Destabilizing | 0.999 | D | 0.777 | deleterious | N | 0.509229 | None | None | N |
| G/W | 0.8706 | likely_pathogenic | 0.7833 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/Y | 0.835 | likely_pathogenic | 0.739 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.775 | 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.