Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7584 | 22975;22976;22977 | chr2:178721913;178721912;178721911 | chr2:179586640;179586639;179586638 |
| N2AB | 7267 | 22024;22025;22026 | chr2:178721913;178721912;178721911 | chr2:179586640;179586639;179586638 |
| N2A | 6340 | 19243;19244;19245 | chr2:178721913;178721912;178721911 | chr2:179586640;179586639;179586638 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/L | rs530109283  |
0.661 | None | N | 0.259 | 0.251 | 0.430579932962 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/L | rs530109283 |
0.661 | None | N | 0.259 | 0.251 | 0.430579932962 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| Q/L | rs530109283 |
0.661 | None | N | 0.259 | 0.251 | 0.430579932962 | gnomAD-4.0.0 | 6.5653E-06 | None | None | None | None | N | None | 0 | 6.53937E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs530109283 |
None | None | N | 0.147 | 0.148 | 0.139678290688 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs530109283 |
None | None | N | 0.147 | 0.148 | 0.139678290688 | gnomAD-4.0.0 | 2.02982E-06 | None | None | None | None | N | None | 0 | 6.15157E-05 | None | 0 | 0 | None | 0 | 0 | 1.20493E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2174 | likely_benign | 0.2139 | benign | -0.424 | Destabilizing | 0.07 | N | 0.301 | neutral | None | None | None | None | N |
| Q/C | 0.5423 | ambiguous | 0.5728 | pathogenic | 0.055 | Stabilizing | 0.912 | D | 0.491 | neutral | None | None | None | None | N |
| Q/D | 0.342 | ambiguous | 0.3665 | ambiguous | -1.082 | Destabilizing | 0.025 | N | 0.309 | neutral | None | None | None | None | N |
| Q/E | 0.0865 | likely_benign | 0.0859 | benign | -1.023 | Destabilizing | 0.001 | N | 0.133 | neutral | N | 0.385448107 | None | None | N |
| Q/F | 0.4056 | ambiguous | 0.4425 | ambiguous | -0.54 | Destabilizing | 0.451 | N | 0.579 | neutral | None | None | None | None | N |
| Q/G | 0.3306 | likely_benign | 0.34 | ambiguous | -0.723 | Destabilizing | 0.148 | N | 0.386 | neutral | None | None | None | None | N |
| Q/H | 0.1343 | likely_benign | 0.1644 | benign | -0.946 | Destabilizing | None | N | 0.245 | neutral | N | 0.489076694 | None | None | N |
| Q/I | 0.18 | likely_benign | 0.1818 | benign | 0.312 | Stabilizing | 0.077 | N | 0.471 | neutral | None | None | None | None | N |
| Q/K | 0.0917 | likely_benign | 0.0905 | benign | -0.177 | Destabilizing | 0.001 | N | 0.127 | neutral | N | 0.442762827 | None | None | N |
| Q/L | 0.0784 | likely_benign | 0.0806 | benign | 0.312 | Stabilizing | None | N | 0.259 | neutral | N | 0.438629231 | None | None | N |
| Q/M | 0.239 | likely_benign | 0.229 | benign | 0.945 | Stabilizing | 0.37 | N | 0.396 | neutral | None | None | None | None | N |
| Q/N | 0.2127 | likely_benign | 0.2297 | benign | -0.765 | Destabilizing | 0.059 | N | 0.307 | neutral | None | None | None | None | N |
| Q/P | 0.2003 | likely_benign | 0.204 | benign | 0.098 | Stabilizing | 0.162 | N | 0.443 | neutral | N | 0.501773845 | None | None | N |
| Q/R | 0.0956 | likely_benign | 0.0993 | benign | -0.125 | Destabilizing | None | N | 0.147 | neutral | N | 0.440629386 | None | None | N |
| Q/S | 0.2343 | likely_benign | 0.2488 | benign | -0.746 | Destabilizing | 0.08 | N | 0.289 | neutral | None | None | None | None | N |
| Q/T | 0.1626 | likely_benign | 0.1566 | benign | -0.507 | Destabilizing | None | N | 0.196 | neutral | None | None | None | None | N |
| Q/V | 0.144 | likely_benign | 0.1435 | benign | 0.098 | Stabilizing | None | N | 0.279 | neutral | None | None | None | None | N |
| Q/W | 0.3311 | likely_benign | 0.3766 | ambiguous | -0.516 | Destabilizing | 0.981 | D | 0.511 | neutral | None | None | None | None | N |
| Q/Y | 0.2779 | likely_benign | 0.3157 | benign | -0.186 | Destabilizing | 0.105 | N | 0.523 | 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.