Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20221 | 60886;60887;60888 | chr2:178591064;178591063;178591062 | chr2:179455791;179455790;179455789 |
| N2AB | 18580 | 55963;55964;55965 | chr2:178591064;178591063;178591062 | chr2:179455791;179455790;179455789 |
| N2A | 17653 | 53182;53183;53184 | chr2:178591064;178591063;178591062 | chr2:179455791;179455790;179455789 |
| N2B | 11156 | 33691;33692;33693 | chr2:178591064;178591063;178591062 | chr2:179455791;179455790;179455789 |
| Novex-1 | 11281 | 34066;34067;34068 | chr2:178591064;178591063;178591062 | chr2:179455791;179455790;179455789 |
| Novex-2 | 11348 | 34267;34268;34269 | chr2:178591064;178591063;178591062 | chr2:179455791;179455790;179455789 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.201 | N | 0.349 | 0.114 | 0.526943034955 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| V/I | rs2050102457  |
None | 0.004 | N | 0.159 | 0.045 | 0.382592752248 | gnomAD-4.0.0 | 1.59214E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85979E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1663 | likely_benign | 0.1719 | benign | -0.658 | Destabilizing | 0.201 | N | 0.349 | neutral | N | 0.481808713 | None | None | N |
| V/C | 0.6568 | likely_pathogenic | 0.6326 | pathogenic | -0.712 | Destabilizing | 0.992 | D | 0.513 | neutral | None | None | None | None | N |
| V/D | 0.3787 | ambiguous | 0.4193 | ambiguous | -0.272 | Destabilizing | 0.896 | D | 0.559 | neutral | N | 0.494276578 | None | None | N |
| V/E | 0.3148 | likely_benign | 0.3325 | benign | -0.374 | Destabilizing | 0.92 | D | 0.557 | neutral | None | None | None | None | N |
| V/F | 0.1562 | likely_benign | 0.1667 | benign | -0.761 | Destabilizing | 0.81 | D | 0.521 | neutral | N | 0.521540537 | None | None | N |
| V/G | 0.1885 | likely_benign | 0.2047 | benign | -0.82 | Destabilizing | 0.002 | N | 0.343 | neutral | N | 0.475133456 | None | None | N |
| V/H | 0.5497 | ambiguous | 0.567 | pathogenic | -0.312 | Destabilizing | 0.992 | D | 0.568 | neutral | None | None | None | None | N |
| V/I | 0.0667 | likely_benign | 0.0671 | benign | -0.375 | Destabilizing | 0.004 | N | 0.159 | neutral | N | 0.465340537 | None | None | N |
| V/K | 0.3513 | ambiguous | 0.3597 | ambiguous | -0.538 | Destabilizing | 0.85 | D | 0.547 | neutral | None | None | None | None | N |
| V/L | 0.1631 | likely_benign | 0.1646 | benign | -0.375 | Destabilizing | 0.08 | N | 0.265 | neutral | N | 0.466148614 | None | None | N |
| V/M | 0.1053 | likely_benign | 0.1122 | benign | -0.38 | Destabilizing | 0.127 | N | 0.224 | neutral | None | None | None | None | N |
| V/N | 0.2418 | likely_benign | 0.2613 | benign | -0.282 | Destabilizing | 0.92 | D | 0.579 | neutral | None | None | None | None | N |
| V/P | 0.3544 | ambiguous | 0.3705 | ambiguous | -0.433 | Destabilizing | 0.972 | D | 0.577 | neutral | None | None | None | None | N |
| V/Q | 0.3276 | likely_benign | 0.3376 | benign | -0.532 | Destabilizing | 0.92 | D | 0.581 | neutral | None | None | None | None | N |
| V/R | 0.3257 | likely_benign | 0.3363 | benign | 0.006 | Stabilizing | 0.85 | D | 0.585 | neutral | None | None | None | None | N |
| V/S | 0.2056 | likely_benign | 0.2208 | benign | -0.708 | Destabilizing | 0.617 | D | 0.507 | neutral | None | None | None | None | N |
| V/T | 0.1491 | likely_benign | 0.1542 | benign | -0.706 | Destabilizing | 0.617 | D | 0.315 | neutral | None | None | None | None | N |
| V/W | 0.7588 | likely_pathogenic | 0.7653 | pathogenic | -0.82 | Destabilizing | 0.992 | D | 0.593 | neutral | None | None | None | None | N |
| V/Y | 0.5149 | ambiguous | 0.5184 | ambiguous | -0.531 | Destabilizing | 0.92 | D | 0.529 | 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.