Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16275 | 49048;49049;49050 | chr2:178614691;178614690;178614689 | chr2:179479418;179479417;179479416 |
| N2AB | 14634 | 44125;44126;44127 | chr2:178614691;178614690;178614689 | chr2:179479418;179479417;179479416 |
| N2A | 13707 | 41344;41345;41346 | chr2:178614691;178614690;178614689 | chr2:179479418;179479417;179479416 |
| N2B | 7210 | 21853;21854;21855 | chr2:178614691;178614690;178614689 | chr2:179479418;179479417;179479416 |
| Novex-1 | 7335 | 22228;22229;22230 | chr2:178614691;178614690;178614689 | chr2:179479418;179479417;179479416 |
| Novex-2 | 7402 | 22429;22430;22431 | chr2:178614691;178614690;178614689 | chr2:179479418;179479417;179479416 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.999 | N | 0.618 | 0.329 | 0.197625483188 | gnomAD-4.0.0 | 6.84864E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00012E-07 | 0 | 0 |
| K/N | rs2056975496  |
None | 1.0 | N | 0.728 | 0.213 | 0.139678290688 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/N | rs2056975496 |
None | 1.0 | N | 0.728 | 0.213 | 0.139678290688 | gnomAD-4.0.0 | 4.3422E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08889E-06 | 0 | 1.60369E-05 |
| K/Q | None | None | 1.0 | N | 0.701 | 0.3 | 0.181679512989 | gnomAD-4.0.0 | 6.84864E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00012E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4347 | ambiguous | 0.4093 | ambiguous | -0.351 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/C | 0.8055 | likely_pathogenic | 0.8031 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| K/D | 0.7775 | likely_pathogenic | 0.7599 | pathogenic | 0.272 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| K/E | 0.3707 | ambiguous | 0.3482 | ambiguous | 0.341 | Stabilizing | 0.999 | D | 0.618 | neutral | N | 0.448147105 | None | None | N |
| K/F | 0.9277 | likely_pathogenic | 0.9172 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/G | 0.6963 | likely_pathogenic | 0.6749 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| K/H | 0.4722 | ambiguous | 0.4655 | ambiguous | -0.95 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| K/I | 0.5475 | ambiguous | 0.5225 | ambiguous | 0.397 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| K/L | 0.5538 | ambiguous | 0.5385 | ambiguous | 0.397 | Stabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| K/M | 0.3634 | ambiguous | 0.3412 | ambiguous | 0.234 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.453137234 | None | None | N |
| K/N | 0.5835 | likely_pathogenic | 0.5564 | ambiguous | -0.107 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.443580167 | None | None | N |
| K/P | 0.6445 | likely_pathogenic | 0.5998 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/Q | 0.2101 | likely_benign | 0.2073 | benign | -0.246 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.450143358 | None | None | N |
| K/R | 0.1011 | likely_benign | 0.1036 | benign | -0.3 | Destabilizing | 0.999 | D | 0.57 | neutral | N | 0.446579842 | None | None | N |
| K/S | 0.5597 | ambiguous | 0.5335 | ambiguous | -0.797 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/T | 0.2015 | likely_benign | 0.1898 | benign | -0.537 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.419834888 | None | None | N |
| K/V | 0.4136 | ambiguous | 0.3969 | ambiguous | 0.178 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| K/W | 0.9289 | likely_pathogenic | 0.9243 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| K/Y | 0.8586 | likely_pathogenic | 0.842 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.702 | 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.