Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30733 | 92422;92423;92424 | chr2:178549429;178549428;178549427 | chr2:179414156;179414155;179414154 |
| N2AB | 29092 | 87499;87500;87501 | chr2:178549429;178549428;178549427 | chr2:179414156;179414155;179414154 |
| N2A | 28165 | 84718;84719;84720 | chr2:178549429;178549428;178549427 | chr2:179414156;179414155;179414154 |
| N2B | 21668 | 65227;65228;65229 | chr2:178549429;178549428;178549427 | chr2:179414156;179414155;179414154 |
| Novex-1 | 21793 | 65602;65603;65604 | chr2:178549429;178549428;178549427 | chr2:179414156;179414155;179414154 |
| Novex-2 | 21860 | 65803;65804;65805 | chr2:178549429;178549428;178549427 | chr2:179414156;179414155;179414154 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.974 | N | 0.533 | 0.247 | 0.219573609325 | gnomAD-4.0.0 | 1.59669E-06 | None | None | None | None | N | None | 0 | 2.29158E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.803 | 0.337 | 0.215109475489 | gnomAD-4.0.0 | 1.59669E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.872E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1448 | likely_benign | 0.1669 | benign | -0.57 | Destabilizing | 0.974 | D | 0.533 | neutral | N | 0.44881086 | None | None | N |
| G/C | 0.3103 | likely_benign | 0.3751 | ambiguous | -1.31 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.48078976 | None | None | N |
| G/D | 0.5905 | likely_pathogenic | 0.6598 | pathogenic | -2.079 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.432804044 | None | None | N |
| G/E | 0.4555 | ambiguous | 0.5157 | ambiguous | -2.168 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/F | 0.8293 | likely_pathogenic | 0.8947 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/H | 0.6352 | likely_pathogenic | 0.7084 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/I | 0.5634 | ambiguous | 0.6739 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/K | 0.5479 | ambiguous | 0.6253 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/L | 0.6955 | likely_pathogenic | 0.7725 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/M | 0.7133 | likely_pathogenic | 0.7839 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/N | 0.504 | ambiguous | 0.571 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/P | 0.8184 | likely_pathogenic | 0.8589 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/Q | 0.4926 | ambiguous | 0.5626 | ambiguous | -1.362 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/R | 0.3764 | ambiguous | 0.4588 | ambiguous | -0.599 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.422704481 | None | None | N |
| G/S | 0.1294 | likely_benign | 0.1464 | benign | -1.09 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.424547133 | None | None | N |
| G/T | 0.3304 | likely_benign | 0.3958 | ambiguous | -1.132 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/V | 0.4195 | ambiguous | 0.5134 | ambiguous | -0.48 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.475509841 | None | None | N |
| G/W | 0.6738 | likely_pathogenic | 0.7647 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/Y | 0.6987 | likely_pathogenic | 0.7965 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.775 | 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.