Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17123 | 51592;51593;51594 | chr2:178610159;178610158;178610157 | chr2:179474886;179474885;179474884 |
| N2AB | 15482 | 46669;46670;46671 | chr2:178610159;178610158;178610157 | chr2:179474886;179474885;179474884 |
| N2A | 14555 | 43888;43889;43890 | chr2:178610159;178610158;178610157 | chr2:179474886;179474885;179474884 |
| N2B | 8058 | 24397;24398;24399 | chr2:178610159;178610158;178610157 | chr2:179474886;179474885;179474884 |
| Novex-1 | 8183 | 24772;24773;24774 | chr2:178610159;178610158;178610157 | chr2:179474886;179474885;179474884 |
| Novex-2 | 8250 | 24973;24974;24975 | chr2:178610159;178610158;178610157 | chr2:179474886;179474885;179474884 |
| 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/V | None | None | 1.0 | D | 0.717 | 0.705 | 0.658592010494 | gnomAD-4.0.0 | 1.59286E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86138E-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 | 0.9351 | likely_pathogenic | 0.9524 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/D | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -3.009 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/E | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -2.811 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.567205292 | None | None | N |
| A/F | 0.9954 | likely_pathogenic | 0.9958 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/G | 0.3669 | ambiguous | 0.3884 | ambiguous | -2.085 | Highly Destabilizing | 1.0 | D | 0.624 | neutral | D | 0.524057795 | None | None | N |
| A/H | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/I | 0.9848 | likely_pathogenic | 0.9908 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/L | 0.9603 | likely_pathogenic | 0.967 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/M | 0.9775 | likely_pathogenic | 0.9842 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/N | 0.9934 | likely_pathogenic | 0.9949 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/P | 0.7072 | likely_pathogenic | 0.7729 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.540960735 | None | None | N |
| A/Q | 0.9955 | likely_pathogenic | 0.9958 | pathogenic | -1.715 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/R | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/S | 0.5078 | ambiguous | 0.5839 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.514788176 | None | None | N |
| A/T | 0.9042 | likely_pathogenic | 0.9446 | pathogenic | -1.928 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.540525754 | None | None | N |
| A/V | 0.9173 | likely_pathogenic | 0.9463 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.54230018 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/Y | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.881 | 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.