Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32786 | 98581;98582;98583 | chr2:178539709;178539708;178539707 | chr2:179404436;179404435;179404434 |
| N2AB | 31145 | 93658;93659;93660 | chr2:178539709;178539708;178539707 | chr2:179404436;179404435;179404434 |
| N2A | 30218 | 90877;90878;90879 | chr2:178539709;178539708;178539707 | chr2:179404436;179404435;179404434 |
| N2B | 23721 | 71386;71387;71388 | chr2:178539709;178539708;178539707 | chr2:179404436;179404435;179404434 |
| Novex-1 | 23846 | 71761;71762;71763 | chr2:178539709;178539708;178539707 | chr2:179404436;179404435;179404434 |
| Novex-2 | 23913 | 71962;71963;71964 | chr2:178539709;178539708;178539707 | chr2:179404436;179404435;179404434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1170766154  |
None | 0.013 | N | 0.347 | 0.189 | 0.387202362727 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1170766154 |
None | 0.013 | N | 0.347 | 0.189 | 0.387202362727 | gnomAD-4.0.0 | 2.02998E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13507E-04 | None | 0 | 0 | 1.20494E-06 | 0 | 0 |
| V/I | rs1206930199 |
-0.162 | 0.174 | N | 0.561 | 0.117 | 0.435915822735 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1206930199 |
-0.162 | 0.174 | N | 0.561 | 0.117 | 0.435915822735 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 5.65483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2135 | likely_benign | 0.2359 | benign | -1.418 | Destabilizing | 0.013 | N | 0.347 | neutral | N | 0.384253241 | None | None | N |
| V/C | 0.7477 | likely_pathogenic | 0.7747 | pathogenic | -0.952 | Destabilizing | 0.991 | D | 0.694 | prob.neutral | None | None | None | None | N |
| V/D | 0.8176 | likely_pathogenic | 0.8747 | pathogenic | -1.135 | Destabilizing | 0.879 | D | 0.809 | deleterious | N | 0.500773767 | None | None | N |
| V/E | 0.7049 | likely_pathogenic | 0.7782 | pathogenic | -1.012 | Destabilizing | 0.906 | D | 0.773 | deleterious | None | None | None | None | N |
| V/F | 0.2907 | likely_benign | 0.3576 | ambiguous | -0.83 | Destabilizing | 0.642 | D | 0.707 | prob.neutral | N | 0.501120484 | None | None | N |
| V/G | 0.3935 | ambiguous | 0.4507 | ambiguous | -1.819 | Destabilizing | 0.782 | D | 0.775 | deleterious | N | 0.479033058 | None | None | N |
| V/H | 0.8373 | likely_pathogenic | 0.8842 | pathogenic | -1.128 | Destabilizing | 0.991 | D | 0.808 | deleterious | None | None | None | None | N |
| V/I | 0.0941 | likely_benign | 0.0952 | benign | -0.366 | Destabilizing | 0.174 | N | 0.561 | neutral | N | 0.474280599 | None | None | N |
| V/K | 0.6458 | likely_pathogenic | 0.7256 | pathogenic | -1.049 | Destabilizing | 0.906 | D | 0.753 | deleterious | None | None | None | None | N |
| V/L | 0.2261 | likely_benign | 0.2659 | benign | -0.366 | Destabilizing | 0.001 | N | 0.285 | neutral | N | 0.456868275 | None | None | N |
| V/M | 0.2204 | likely_benign | 0.2423 | benign | -0.454 | Destabilizing | 0.826 | D | 0.603 | neutral | None | None | None | None | N |
| V/N | 0.6565 | likely_pathogenic | 0.7352 | pathogenic | -1.153 | Destabilizing | 0.967 | D | 0.817 | deleterious | None | None | None | None | N |
| V/P | 0.9568 | likely_pathogenic | 0.9772 | pathogenic | -0.685 | Destabilizing | 0.906 | D | 0.781 | deleterious | None | None | None | None | N |
| V/Q | 0.6391 | likely_pathogenic | 0.7045 | pathogenic | -1.115 | Destabilizing | 0.967 | D | 0.794 | deleterious | None | None | None | None | N |
| V/R | 0.5644 | likely_pathogenic | 0.6533 | pathogenic | -0.76 | Destabilizing | 0.906 | D | 0.811 | deleterious | None | None | None | None | N |
| V/S | 0.4477 | ambiguous | 0.5058 | ambiguous | -1.766 | Destabilizing | 0.704 | D | 0.74 | deleterious | None | None | None | None | N |
| V/T | 0.3174 | likely_benign | 0.3585 | ambiguous | -1.502 | Destabilizing | 0.575 | D | 0.565 | neutral | None | None | None | None | N |
| V/W | 0.9388 | likely_pathogenic | 0.9597 | pathogenic | -1.08 | Destabilizing | 0.991 | D | 0.799 | deleterious | None | None | None | None | N |
| V/Y | 0.7487 | likely_pathogenic | 0.8102 | pathogenic | -0.723 | Destabilizing | 0.906 | D | 0.703 | prob.neutral | 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.