Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25396 | 76411;76412;76413 | chr2:178569946;178569945;178569944 | chr2:179434673;179434672;179434671 |
| N2AB | 23755 | 71488;71489;71490 | chr2:178569946;178569945;178569944 | chr2:179434673;179434672;179434671 |
| N2A | 22828 | 68707;68708;68709 | chr2:178569946;178569945;178569944 | chr2:179434673;179434672;179434671 |
| N2B | 16331 | 49216;49217;49218 | chr2:178569946;178569945;178569944 | chr2:179434673;179434672;179434671 |
| Novex-1 | 16456 | 49591;49592;49593 | chr2:178569946;178569945;178569944 | chr2:179434673;179434672;179434671 |
| Novex-2 | 16523 | 49792;49793;49794 | chr2:178569946;178569945;178569944 | chr2:179434673;179434672;179434671 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/D | rs771853872  |
-0.285 | 0.808 | N | 0.717 | 0.308 | 0.485846224565 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| Y/D | rs771853872 |
-0.285 | 0.808 | N | 0.717 | 0.308 | 0.485846224565 | gnomAD-4.0.0 | 1.59362E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86231E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.3352 | likely_benign | 0.3749 | ambiguous | -1.8 | Destabilizing | 0.615 | D | 0.609 | neutral | None | None | None | None | N |
| Y/C | 0.108 | likely_benign | 0.1192 | benign | -0.411 | Destabilizing | 0.99 | D | 0.702 | prob.delet. | N | 0.505701506 | None | None | N |
| Y/D | 0.4447 | ambiguous | 0.469 | ambiguous | 0.116 | Stabilizing | 0.808 | D | 0.717 | prob.delet. | N | 0.469439319 | None | None | N |
| Y/E | 0.6837 | likely_pathogenic | 0.7115 | pathogenic | 0.135 | Stabilizing | 0.848 | D | 0.658 | prob.neutral | None | None | None | None | N |
| Y/F | 0.0752 | likely_benign | 0.0794 | benign | -1.039 | Destabilizing | 0.709 | D | 0.557 | neutral | N | 0.432817113 | None | None | N |
| Y/G | 0.3257 | likely_benign | 0.3912 | ambiguous | -2.052 | Highly Destabilizing | 0.848 | D | 0.661 | prob.neutral | None | None | None | None | N |
| Y/H | 0.2069 | likely_benign | 0.2205 | benign | -0.544 | Destabilizing | 0.009 | N | 0.328 | neutral | N | 0.505701506 | None | None | N |
| Y/I | 0.3994 | ambiguous | 0.408 | ambiguous | -1.09 | Destabilizing | 0.919 | D | 0.629 | neutral | None | None | None | None | N |
| Y/K | 0.5833 | likely_pathogenic | 0.596 | pathogenic | -0.421 | Destabilizing | 0.848 | D | 0.652 | prob.neutral | None | None | None | None | N |
| Y/L | 0.3156 | likely_benign | 0.3233 | benign | -1.09 | Destabilizing | 0.615 | D | 0.611 | neutral | None | None | None | None | N |
| Y/M | 0.5389 | ambiguous | 0.5796 | pathogenic | -0.641 | Destabilizing | 0.992 | D | 0.61 | neutral | None | None | None | None | N |
| Y/N | 0.2215 | likely_benign | 0.256 | benign | -0.521 | Destabilizing | 0.679 | D | 0.721 | deleterious | N | 0.46918583 | None | None | N |
| Y/P | 0.3626 | ambiguous | 0.3828 | ambiguous | -1.314 | Destabilizing | 0.005 | N | 0.593 | neutral | None | None | None | None | N |
| Y/Q | 0.5014 | ambiguous | 0.5397 | ambiguous | -0.58 | Destabilizing | 0.848 | D | 0.648 | neutral | None | None | None | None | N |
| Y/R | 0.4108 | ambiguous | 0.4211 | ambiguous | 0.098 | Stabilizing | 0.848 | D | 0.739 | deleterious | None | None | None | None | N |
| Y/S | 0.1779 | likely_benign | 0.2095 | benign | -1.127 | Destabilizing | 0.808 | D | 0.656 | prob.neutral | N | 0.47016478 | None | None | N |
| Y/T | 0.3723 | ambiguous | 0.4224 | ambiguous | -1.018 | Destabilizing | 0.848 | D | 0.647 | neutral | None | None | None | None | N |
| Y/V | 0.3155 | likely_benign | 0.3256 | benign | -1.314 | Destabilizing | 0.764 | D | 0.629 | neutral | None | None | None | None | N |
| Y/W | 0.3293 | likely_benign | 0.3456 | ambiguous | -0.802 | Destabilizing | 0.992 | D | 0.581 | 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.