Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20916 | 62971;62972;62973 | chr2:178588979;178588978;178588977 | chr2:179453706;179453705;179453704 |
| N2AB | 19275 | 58048;58049;58050 | chr2:178588979;178588978;178588977 | chr2:179453706;179453705;179453704 |
| N2A | 18348 | 55267;55268;55269 | chr2:178588979;178588978;178588977 | chr2:179453706;179453705;179453704 |
| N2B | 11851 | 35776;35777;35778 | chr2:178588979;178588978;178588977 | chr2:179453706;179453705;179453704 |
| Novex-1 | 11976 | 36151;36152;36153 | chr2:178588979;178588978;178588977 | chr2:179453706;179453705;179453704 |
| Novex-2 | 12043 | 36352;36353;36354 | chr2:178588979;178588978;178588977 | chr2:179453706;179453705;179453704 |
| 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/D | None | None | 0.331 | N | 0.544 | 0.294 | 0.580281640613 | gnomAD-4.0.0 | 1.59497E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.90266E-05 | 0 | 0 | 0 | 0 |
| A/S | None | None | None | N | 0.147 | 0.059 | 0.238705975628 | gnomAD-4.0.0 | 1.595E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79408E-05 | None | 0 | 0 | 0 | 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 | 0.486 | ambiguous | 0.4191 | ambiguous | -0.789 | Destabilizing | 0.909 | D | 0.5 | neutral | None | None | None | None | N |
| A/D | 0.5199 | ambiguous | 0.4982 | ambiguous | -0.637 | Destabilizing | 0.331 | N | 0.544 | neutral | N | 0.434902987 | None | None | N |
| A/E | 0.5061 | ambiguous | 0.4524 | ambiguous | -0.788 | Destabilizing | 0.157 | N | 0.481 | neutral | None | None | None | None | N |
| A/F | 0.5569 | ambiguous | 0.5144 | ambiguous | -1.086 | Destabilizing | 0.726 | D | 0.624 | neutral | None | None | None | None | N |
| A/G | 0.14 | likely_benign | 0.1336 | benign | -0.518 | Destabilizing | 0.055 | N | 0.505 | neutral | N | 0.491623061 | None | None | N |
| A/H | 0.6138 | likely_pathogenic | 0.593 | pathogenic | -0.584 | Destabilizing | 0.909 | D | 0.617 | neutral | None | None | None | None | N |
| A/I | 0.4167 | ambiguous | 0.3784 | ambiguous | -0.47 | Destabilizing | 0.567 | D | 0.536 | neutral | None | None | None | None | N |
| A/K | 0.7088 | likely_pathogenic | 0.6664 | pathogenic | -0.669 | Destabilizing | 0.157 | N | 0.477 | neutral | None | None | None | None | N |
| A/L | 0.2683 | likely_benign | 0.2357 | benign | -0.47 | Destabilizing | 0.272 | N | 0.485 | neutral | None | None | None | None | N |
| A/M | 0.311 | likely_benign | 0.2841 | benign | -0.34 | Destabilizing | 0.968 | D | 0.542 | neutral | None | None | None | None | N |
| A/N | 0.2573 | likely_benign | 0.2413 | benign | -0.371 | Destabilizing | 0.396 | N | 0.541 | neutral | None | None | None | None | N |
| A/P | 0.2627 | likely_benign | 0.2643 | benign | -0.43 | Destabilizing | 0.001 | N | 0.289 | neutral | N | 0.483176936 | None | None | N |
| A/Q | 0.469 | ambiguous | 0.4388 | ambiguous | -0.694 | Destabilizing | 0.567 | D | 0.545 | neutral | None | None | None | None | N |
| A/R | 0.6987 | likely_pathogenic | 0.6612 | pathogenic | -0.203 | Destabilizing | 0.567 | D | 0.537 | neutral | None | None | None | None | N |
| A/S | 0.0779 | likely_benign | 0.0777 | benign | -0.585 | Destabilizing | None | N | 0.147 | neutral | N | 0.446389417 | None | None | N |
| A/T | 0.1015 | likely_benign | 0.0969 | benign | -0.662 | Destabilizing | 0.124 | N | 0.463 | neutral | N | 0.460145361 | None | None | N |
| A/V | 0.206 | likely_benign | 0.1851 | benign | -0.43 | Destabilizing | 0.22 | N | 0.466 | neutral | N | 0.496041872 | None | None | N |
| A/W | 0.8758 | likely_pathogenic | 0.8457 | pathogenic | -1.209 | Destabilizing | 0.968 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/Y | 0.6274 | likely_pathogenic | 0.5884 | pathogenic | -0.852 | Destabilizing | 0.726 | D | 0.616 | 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.