Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16295 | 49108;49109;49110 | chr2:178614631;178614630;178614629 | chr2:179479358;179479357;179479356 |
| N2AB | 14654 | 44185;44186;44187 | chr2:178614631;178614630;178614629 | chr2:179479358;179479357;179479356 |
| N2A | 13727 | 41404;41405;41406 | chr2:178614631;178614630;178614629 | chr2:179479358;179479357;179479356 |
| N2B | 7230 | 21913;21914;21915 | chr2:178614631;178614630;178614629 | chr2:179479358;179479357;179479356 |
| Novex-1 | 7355 | 22288;22289;22290 | chr2:178614631;178614630;178614629 | chr2:179479358;179479357;179479356 |
| Novex-2 | 7422 | 22489;22490;22491 | chr2:178614631;178614630;178614629 | chr2:179479358;179479357;179479356 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs757122712  |
-0.145 | 0.996 | N | 0.549 | 0.224 | 0.289474373501 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs757122712 |
-0.145 | 0.996 | N | 0.549 | 0.224 | 0.289474373501 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs757122712 |
-0.145 | 0.996 | N | 0.549 | 0.224 | 0.289474373501 | gnomAD-4.0.0 | 5.13363E-06 | None | None | None | None | N | None | 6.78173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.999 | N | 0.647 | 0.257 | 0.352910780287 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.649 | likely_pathogenic | 0.6703 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| A/D | 0.3578 | ambiguous | 0.4108 | ambiguous | -0.523 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | N | 0.393278053 | None | None | N |
| A/E | 0.4111 | ambiguous | 0.4775 | ambiguous | -0.689 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/F | 0.6567 | likely_pathogenic | 0.7003 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| A/G | 0.0904 | likely_benign | 0.1044 | benign | -0.118 | Destabilizing | 0.434 | N | 0.419 | neutral | N | 0.410878779 | None | None | N |
| A/H | 0.7169 | likely_pathogenic | 0.7514 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| A/I | 0.7672 | likely_pathogenic | 0.7752 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/K | 0.6991 | likely_pathogenic | 0.7623 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/L | 0.3877 | ambiguous | 0.4012 | ambiguous | -0.247 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| A/M | 0.4599 | ambiguous | 0.477 | ambiguous | -0.302 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| A/N | 0.2693 | likely_benign | 0.2966 | benign | -0.097 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/P | 0.8737 | likely_pathogenic | 0.8759 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.448161902 | None | None | N |
| A/Q | 0.4419 | ambiguous | 0.4905 | ambiguous | -0.4 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| A/R | 0.6523 | likely_pathogenic | 0.7144 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| A/S | 0.0972 | likely_benign | 0.1024 | benign | -0.241 | Destabilizing | 0.996 | D | 0.549 | neutral | N | 0.447222652 | None | None | N |
| A/T | 0.2225 | likely_benign | 0.2314 | benign | -0.338 | Destabilizing | 0.999 | D | 0.656 | neutral | N | 0.44050421 | None | None | N |
| A/V | 0.45 | ambiguous | 0.457 | ambiguous | -0.168 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.451417523 | None | None | N |
| A/W | 0.9305 | likely_pathogenic | 0.9359 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| A/Y | 0.7214 | likely_pathogenic | 0.7487 | pathogenic | -0.641 | Destabilizing | 1.0 | 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.