Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31586 | 94981;94982;94983 | chr2:178546672;178546671;178546670 | chr2:179411399;179411398;179411397 |
| N2AB | 29945 | 90058;90059;90060 | chr2:178546672;178546671;178546670 | chr2:179411399;179411398;179411397 |
| N2A | 29018 | 87277;87278;87279 | chr2:178546672;178546671;178546670 | chr2:179411399;179411398;179411397 |
| N2B | 22521 | 67786;67787;67788 | chr2:178546672;178546671;178546670 | chr2:179411399;179411398;179411397 |
| Novex-1 | 22646 | 68161;68162;68163 | chr2:178546672;178546671;178546670 | chr2:179411399;179411398;179411397 |
| Novex-2 | 22713 | 68362;68363;68364 | chr2:178546672;178546671;178546670 | chr2:179411399;179411398;179411397 |
| 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/G | None | None | 0.998 | D | 0.673 | 0.622 | 0.663397737457 | 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 | 0.8638 | likely_pathogenic | 0.8234 | pathogenic | -1.636 | Destabilizing | 0.844 | D | 0.425 | neutral | None | None | None | None | N |
| A/D | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -2.88 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.581942185 | None | None | N |
| A/E | 0.9961 | likely_pathogenic | 0.9951 | pathogenic | -2.636 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/F | 0.9923 | likely_pathogenic | 0.9892 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| A/G | 0.6338 | likely_pathogenic | 0.5836 | pathogenic | -2.131 | Highly Destabilizing | 0.998 | D | 0.673 | neutral | D | 0.548745415 | None | None | N |
| A/H | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -2.318 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| A/I | 0.9807 | likely_pathogenic | 0.9687 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/L | 0.9087 | likely_pathogenic | 0.896 | pathogenic | -0.279 | Destabilizing | 0.997 | D | 0.779 | deleterious | None | None | None | None | N |
| A/M | 0.9729 | likely_pathogenic | 0.9641 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/N | 0.9956 | likely_pathogenic | 0.9934 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| A/P | 0.9949 | likely_pathogenic | 0.9907 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.547708685 | None | None | N |
| A/Q | 0.9891 | likely_pathogenic | 0.9871 | pathogenic | -1.689 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/R | 0.9948 | likely_pathogenic | 0.9938 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/S | 0.4396 | ambiguous | 0.3666 | ambiguous | -2.362 | Highly Destabilizing | 0.998 | D | 0.677 | prob.neutral | D | 0.533057016 | None | None | N |
| A/T | 0.8229 | likely_pathogenic | 0.7236 | pathogenic | -1.994 | Destabilizing | 0.999 | D | 0.759 | deleterious | D | 0.548425792 | None | None | N |
| A/V | 0.8691 | likely_pathogenic | 0.8108 | pathogenic | -0.695 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | D | 0.561556524 | None | None | N |
| A/W | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| A/Y | 0.9971 | likely_pathogenic | 0.996 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.946 | deleterious | 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.