Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29004 | 87235;87236;87237 | chr2:178558449;178558448;178558447 | chr2:179423176;179423175;179423174 |
| N2AB | 27363 | 82312;82313;82314 | chr2:178558449;178558448;178558447 | chr2:179423176;179423175;179423174 |
| N2A | 26436 | 79531;79532;79533 | chr2:178558449;178558448;178558447 | chr2:179423176;179423175;179423174 |
| N2B | 19939 | 60040;60041;60042 | chr2:178558449;178558448;178558447 | chr2:179423176;179423175;179423174 |
| Novex-1 | 20064 | 60415;60416;60417 | chr2:178558449;178558448;178558447 | chr2:179423176;179423175;179423174 |
| Novex-2 | 20131 | 60616;60617;60618 | chr2:178558449;178558448;178558447 | chr2:179423176;179423175;179423174 |
| 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/R | None | None | 0.994 | D | 0.807 | 0.443 | 0.569137904973 | gnomAD-4.0.0 | 1.23936E-06 | None | None | None | None | N | None | 1.33276E-05 | 0 | None | 0 | 2.23204E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs761251825  |
-0.22 | 0.119 | D | 0.537 | 0.137 | 0.225902525712 | gnomAD-2.1.1 | 4.65E-05 | None | None | None | None | N | None | 1.23977E-04 | 8.49E-05 | None | 0 | 1.54337E-04 | None | 6.54E-05 | None | 0 | 1.57E-05 | 0 |
| G/S | rs761251825 |
-0.22 | 0.119 | D | 0.537 | 0.137 | 0.225902525712 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 9.65E-05 | 6.56E-05 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 1.47E-05 | 2.07555E-04 | 0 |
| G/S | rs761251825 |
-0.22 | 0.119 | D | 0.537 | 0.137 | 0.225902525712 | gnomAD-4.0.0 | 4.58598E-05 | None | None | None | None | N | None | 8.00961E-05 | 8.33778E-05 | None | 0 | 4.46289E-05 | None | 0 | 0 | 3.81418E-05 | 1.20789E-04 | 8.00538E-05 |
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 | 0.1098 | likely_benign | 0.1332 | benign | -0.212 | Destabilizing | 0.623 | D | 0.53 | neutral | N | 0.507548658 | None | None | N |
| G/C | 0.1399 | likely_benign | 0.1718 | benign | -0.93 | Destabilizing | 0.998 | D | 0.756 | deleterious | N | 0.520172411 | None | None | N |
| G/D | 0.1553 | likely_benign | 0.1944 | benign | -0.285 | Destabilizing | 0.961 | D | 0.795 | deleterious | N | 0.475058885 | None | None | N |
| G/E | 0.1977 | likely_benign | 0.2448 | benign | -0.437 | Destabilizing | 0.978 | D | 0.782 | deleterious | None | None | None | None | N |
| G/F | 0.3952 | ambiguous | 0.4874 | ambiguous | -0.909 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| G/H | 0.2105 | likely_benign | 0.2426 | benign | -0.368 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| G/I | 0.2529 | likely_benign | 0.3492 | ambiguous | -0.371 | Destabilizing | 0.997 | D | 0.821 | deleterious | None | None | None | None | N |
| G/K | 0.2652 | likely_benign | 0.3282 | benign | -0.638 | Destabilizing | 0.978 | D | 0.78 | deleterious | None | None | None | None | N |
| G/L | 0.289 | likely_benign | 0.3802 | ambiguous | -0.371 | Destabilizing | 0.989 | D | 0.797 | deleterious | None | None | None | None | N |
| G/M | 0.3258 | likely_benign | 0.4087 | ambiguous | -0.528 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/N | 0.1354 | likely_benign | 0.1641 | benign | -0.353 | Destabilizing | 0.978 | D | 0.785 | deleterious | None | None | None | None | N |
| G/P | 0.7333 | likely_pathogenic | 0.8453 | pathogenic | -0.287 | Destabilizing | 0.97 | D | 0.8 | deleterious | None | None | None | None | N |
| G/Q | 0.221 | likely_benign | 0.2635 | benign | -0.589 | Destabilizing | 0.997 | D | 0.809 | deleterious | None | None | None | None | N |
| G/R | 0.2073 | likely_benign | 0.2481 | benign | -0.256 | Destabilizing | 0.994 | D | 0.807 | deleterious | D | 0.526202569 | None | None | N |
| G/S | 0.0774 | likely_benign | 0.087 | benign | -0.541 | Destabilizing | 0.119 | N | 0.537 | neutral | D | 0.523815625 | None | None | N |
| G/T | 0.1261 | likely_benign | 0.1563 | benign | -0.613 | Destabilizing | 0.978 | D | 0.793 | deleterious | None | None | None | None | N |
| G/V | 0.1845 | likely_benign | 0.2552 | benign | -0.287 | Destabilizing | 0.985 | D | 0.809 | deleterious | D | 0.531021737 | None | None | N |
| G/W | 0.3448 | ambiguous | 0.4244 | ambiguous | -1.05 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Y | 0.278 | likely_benign | 0.3456 | ambiguous | -0.702 | Destabilizing | 0.999 | D | 0.819 | 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.