Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32967 | 99124;99125;99126 | chr2:178539036;178539035;178539034 | chr2:179403763;179403762;179403761 |
| N2AB | 31326 | 94201;94202;94203 | chr2:178539036;178539035;178539034 | chr2:179403763;179403762;179403761 |
| N2A | 30399 | 91420;91421;91422 | chr2:178539036;178539035;178539034 | chr2:179403763;179403762;179403761 |
| N2B | 23902 | 71929;71930;71931 | chr2:178539036;178539035;178539034 | chr2:179403763;179403762;179403761 |
| Novex-1 | 24027 | 72304;72305;72306 | chr2:178539036;178539035;178539034 | chr2:179403763;179403762;179403761 |
| Novex-2 | 24094 | 72505;72506;72507 | chr2:178539036;178539035;178539034 | chr2:179403763;179403762;179403761 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs540132942  |
-0.535 | 0.999 | N | 0.607 | 0.424 | 0.323886383625 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67112E-04 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs540132942 |
-0.535 | 0.999 | N | 0.607 | 0.424 | 0.323886383625 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85356E-04 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| E/K | rs540132942 |
-0.535 | 0.999 | N | 0.607 | 0.424 | 0.323886383625 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| E/K | rs540132942 |
-0.535 | 0.999 | N | 0.607 | 0.424 | 0.323886383625 | gnomAD-4.0.0 | 7.68559E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.69979E-05 | None | 0 | 0 | 2.39327E-06 | 1.34009E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.206 | likely_benign | 0.2149 | benign | -1.09 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | D | 0.52223397 | None | None | N |
| E/C | 0.9127 | likely_pathogenic | 0.9156 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| E/D | 0.336 | likely_benign | 0.3534 | ambiguous | -1.324 | Destabilizing | 0.999 | D | 0.473 | neutral | N | 0.507341875 | None | None | N |
| E/F | 0.9029 | likely_pathogenic | 0.9088 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| E/G | 0.3994 | ambiguous | 0.4058 | ambiguous | -1.483 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.471523823 | None | None | N |
| E/H | 0.7231 | likely_pathogenic | 0.7428 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/I | 0.4445 | ambiguous | 0.4566 | ambiguous | -0.003 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| E/K | 0.2614 | likely_benign | 0.2669 | benign | -1.053 | Destabilizing | 0.999 | D | 0.607 | neutral | N | 0.470476998 | None | None | N |
| E/L | 0.5639 | ambiguous | 0.5938 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| E/M | 0.5839 | likely_pathogenic | 0.6004 | pathogenic | 0.589 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/N | 0.4589 | ambiguous | 0.4798 | ambiguous | -1.43 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| E/P | 0.7905 | likely_pathogenic | 0.814 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| E/Q | 0.1876 | likely_benign | 0.1936 | benign | -1.266 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.488409398 | None | None | N |
| E/R | 0.4606 | ambiguous | 0.4735 | ambiguous | -0.817 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| E/S | 0.2889 | likely_benign | 0.2936 | benign | -1.858 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| E/T | 0.247 | likely_benign | 0.2592 | benign | -1.528 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| E/V | 0.248 | likely_benign | 0.263 | benign | -0.345 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.506227154 | None | None | N |
| E/W | 0.9756 | likely_pathogenic | 0.977 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| E/Y | 0.8651 | likely_pathogenic | 0.872 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.763 | 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.