Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3243 | 9952;9953;9954 | chr2:178764788;178764787;178764786 | chr2:179629515;179629514;179629513 |
| N2AB | 3243 | 9952;9953;9954 | chr2:178764788;178764787;178764786 | chr2:179629515;179629514;179629513 |
| N2A | 3243 | 9952;9953;9954 | chr2:178764788;178764787;178764786 | chr2:179629515;179629514;179629513 |
| N2B | 3197 | 9814;9815;9816 | chr2:178764788;178764787;178764786 | chr2:179629515;179629514;179629513 |
| Novex-1 | 3197 | 9814;9815;9816 | chr2:178764788;178764787;178764786 | chr2:179629515;179629514;179629513 |
| Novex-2 | 3197 | 9814;9815;9816 | chr2:178764788;178764787;178764786 | chr2:179629515;179629514;179629513 |
| Novex-3 | 3243 | 9952;9953;9954 | chr2:178764788;178764787;178764786 | chr2:179629515;179629514;179629513 |
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/E | None | None | 0.27 | N | 0.21 | 0.264 | 0.258283824007 | gnomAD-4.0.0 | 6.8438E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99394E-07 | 0 | 0 |
| Q/R | None | None | 0.001 | N | 0.117 | 0.268 | 0.183819452728 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.2966 | likely_benign | 0.4062 | ambiguous | -0.43 | Destabilizing | 0.329 | N | 0.291 | neutral | None | None | None | None | N |
| Q/C | 0.6498 | likely_pathogenic | 0.8205 | pathogenic | 0.089 | Stabilizing | 0.995 | D | 0.321 | neutral | None | None | None | None | N |
| Q/D | 0.4508 | ambiguous | 0.6415 | pathogenic | -0.282 | Destabilizing | 0.704 | D | 0.153 | neutral | None | None | None | None | N |
| Q/E | 0.0894 | likely_benign | 0.1114 | benign | -0.24 | Destabilizing | 0.27 | N | 0.21 | neutral | N | 0.501808834 | None | None | N |
| Q/F | 0.7552 | likely_pathogenic | 0.8751 | pathogenic | -0.242 | Destabilizing | 0.981 | D | 0.348 | neutral | None | None | None | None | N |
| Q/G | 0.3165 | likely_benign | 0.4766 | ambiguous | -0.731 | Destabilizing | 0.495 | N | 0.288 | neutral | None | None | None | None | N |
| Q/H | 0.212 | likely_benign | 0.3307 | benign | -0.554 | Destabilizing | 0.927 | D | 0.294 | neutral | N | 0.516818224 | None | None | N |
| Q/I | 0.515 | ambiguous | 0.6716 | pathogenic | 0.307 | Stabilizing | 0.944 | D | 0.373 | neutral | None | None | None | None | N |
| Q/K | 0.0851 | likely_benign | 0.1192 | benign | -0.32 | Destabilizing | 0.002 | N | 0.098 | neutral | N | 0.479294666 | None | None | N |
| Q/L | 0.176 | likely_benign | 0.2612 | benign | 0.307 | Stabilizing | 0.425 | N | 0.321 | neutral | N | 0.519317297 | None | None | N |
| Q/M | 0.4552 | ambiguous | 0.5674 | pathogenic | 0.565 | Stabilizing | 0.981 | D | 0.305 | neutral | None | None | None | None | N |
| Q/N | 0.3633 | ambiguous | 0.512 | ambiguous | -0.709 | Destabilizing | 0.704 | D | 0.153 | neutral | None | None | None | None | N |
| Q/P | 0.5835 | likely_pathogenic | 0.8411 | pathogenic | 0.092 | Stabilizing | 0.784 | D | 0.351 | neutral | D | 0.60143393 | None | None | N |
| Q/R | 0.0852 | likely_benign | 0.1203 | benign | -0.181 | Destabilizing | 0.001 | N | 0.117 | neutral | N | 0.457777073 | None | None | N |
| Q/S | 0.3192 | likely_benign | 0.443 | ambiguous | -0.733 | Destabilizing | 0.037 | N | 0.099 | neutral | None | None | None | None | N |
| Q/T | 0.2461 | likely_benign | 0.3554 | ambiguous | -0.516 | Destabilizing | 0.329 | N | 0.287 | neutral | None | None | None | None | N |
| Q/V | 0.3512 | ambiguous | 0.4748 | ambiguous | 0.092 | Stabilizing | 0.828 | D | 0.325 | neutral | None | None | None | None | N |
| Q/W | 0.5271 | ambiguous | 0.758 | pathogenic | -0.171 | Destabilizing | 0.995 | D | 0.337 | neutral | None | None | None | None | N |
| Q/Y | 0.5098 | ambiguous | 0.6856 | pathogenic | 0.033 | Stabilizing | 0.981 | D | 0.331 | 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.