Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31392 | 94399;94400;94401 | chr2:178547452;178547451;178547450 | chr2:179412179;179412178;179412177 |
| N2AB | 29751 | 89476;89477;89478 | chr2:178547452;178547451;178547450 | chr2:179412179;179412178;179412177 |
| N2A | 28824 | 86695;86696;86697 | chr2:178547452;178547451;178547450 | chr2:179412179;179412178;179412177 |
| N2B | 22327 | 67204;67205;67206 | chr2:178547452;178547451;178547450 | chr2:179412179;179412178;179412177 |
| Novex-1 | 22452 | 67579;67580;67581 | chr2:178547452;178547451;178547450 | chr2:179412179;179412178;179412177 |
| Novex-2 | 22519 | 67780;67781;67782 | chr2:178547452;178547451;178547450 | chr2:179412179;179412178;179412177 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1274136681  |
None | 0.104 | N | 0.458 | 0.157 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs1274136681 |
None | 0.104 | N | 0.458 | 0.157 | None | gnomAD-4.0.0 | 4.34563E-06 | None | None | None | None | N | None | 1.33526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.09334E-06 | 0 | 0 |
| S/I | None | None | 0.999 | D | 0.833 | 0.464 | 0.792077528292 | gnomAD-4.0.0 | 1.59979E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0338E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4827 | ambiguous | 0.4665 | ambiguous | -0.83 | Destabilizing | 0.98 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/C | 0.7717 | likely_pathogenic | 0.7229 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.5264097 | None | None | N |
| S/D | 0.9853 | likely_pathogenic | 0.9839 | pathogenic | -0.827 | Destabilizing | 0.996 | D | 0.754 | deleterious | None | None | None | None | N |
| S/E | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -0.812 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| S/F | 0.9958 | likely_pathogenic | 0.9941 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| S/G | 0.1764 | likely_benign | 0.1626 | benign | -1.073 | Destabilizing | 0.104 | N | 0.458 | neutral | N | 0.417711588 | None | None | N |
| S/H | 0.9902 | likely_pathogenic | 0.9874 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| S/I | 0.9977 | likely_pathogenic | 0.9967 | pathogenic | -0.281 | Destabilizing | 0.999 | D | 0.833 | deleterious | D | 0.525902721 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.802 | Destabilizing | 0.996 | D | 0.77 | deleterious | None | None | None | None | N |
| S/L | 0.9729 | likely_pathogenic | 0.9638 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| S/M | 0.9866 | likely_pathogenic | 0.983 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/N | 0.9507 | likely_pathogenic | 0.9415 | pathogenic | -0.886 | Destabilizing | 0.994 | D | 0.747 | deleterious | D | 0.525649232 | None | None | N |
| S/P | 0.9966 | likely_pathogenic | 0.9946 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| S/Q | 0.9934 | likely_pathogenic | 0.9922 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| S/R | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -0.636 | Destabilizing | 0.999 | D | 0.788 | deleterious | D | 0.524635274 | None | None | N |
| S/T | 0.8264 | likely_pathogenic | 0.7684 | pathogenic | -0.864 | Destabilizing | 0.994 | D | 0.726 | prob.delet. | D | 0.525395742 | None | None | N |
| S/V | 0.9944 | likely_pathogenic | 0.9918 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| S/W | 0.995 | likely_pathogenic | 0.9935 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| S/Y | 0.9925 | likely_pathogenic | 0.9908 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.831 | 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.