Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2217 | 6874;6875;6876 | chr2:178775062;178775061;178775060 | chr2:179639789;179639788;179639787 |
| N2AB | 2217 | 6874;6875;6876 | chr2:178775062;178775061;178775060 | chr2:179639789;179639788;179639787 |
| N2A | 2217 | 6874;6875;6876 | chr2:178775062;178775061;178775060 | chr2:179639789;179639788;179639787 |
| N2B | 2171 | 6736;6737;6738 | chr2:178775062;178775061;178775060 | chr2:179639789;179639788;179639787 |
| Novex-1 | 2171 | 6736;6737;6738 | chr2:178775062;178775061;178775060 | chr2:179639789;179639788;179639787 |
| Novex-2 | 2171 | 6736;6737;6738 | chr2:178775062;178775061;178775060 | chr2:179639789;179639788;179639787 |
| Novex-3 | 2217 | 6874;6875;6876 | chr2:178775062;178775061;178775060 | chr2:179639789;179639788;179639787 |
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 | rs146236689  |
-0.328 | 0.983 | N | 0.529 | 0.254 | 0.132336055621 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/A | rs146236689 |
-0.328 | 0.983 | N | 0.529 | 0.254 | 0.132336055621 | gnomAD-4.0.0 | 2.05236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99326E-07 | 2.31863E-05 | 0 |
| G/R | None | None | 0.999 | N | 0.765 | 0.355 | 0.410337123052 | gnomAD-4.0.0 | 2.05236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69797E-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 | 0.1904 | likely_benign | 0.1957 | benign | -0.263 | Destabilizing | 0.983 | D | 0.529 | neutral | N | 0.385946592 | None | None | N |
| G/C | 0.3696 | ambiguous | 0.3748 | ambiguous | -0.853 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/D | 0.2485 | likely_benign | 0.2673 | benign | -0.625 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/E | 0.3196 | likely_benign | 0.3407 | ambiguous | -0.768 | Destabilizing | 0.999 | D | 0.749 | deleterious | N | 0.346225897 | None | None | N |
| G/F | 0.7462 | likely_pathogenic | 0.7639 | pathogenic | -0.9 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| G/H | 0.528 | ambiguous | 0.5474 | ambiguous | -0.516 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/I | 0.5488 | ambiguous | 0.573 | pathogenic | -0.331 | Destabilizing | 0.989 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/K | 0.463 | ambiguous | 0.4891 | ambiguous | -0.896 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| G/L | 0.5827 | likely_pathogenic | 0.6002 | pathogenic | -0.331 | Destabilizing | 0.996 | D | 0.741 | deleterious | None | None | None | None | N |
| G/M | 0.5884 | likely_pathogenic | 0.6037 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/N | 0.2957 | likely_benign | 0.3073 | benign | -0.539 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| G/P | 0.9487 | likely_pathogenic | 0.9527 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/Q | 0.4554 | ambiguous | 0.473 | ambiguous | -0.793 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/R | 0.3787 | ambiguous | 0.4006 | ambiguous | -0.455 | Destabilizing | 0.999 | D | 0.765 | deleterious | N | 0.429566703 | None | None | N |
| G/S | 0.1135 | likely_benign | 0.1159 | benign | -0.68 | Destabilizing | 0.998 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/T | 0.1809 | likely_benign | 0.1828 | benign | -0.75 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/V | 0.3764 | ambiguous | 0.3957 | ambiguous | -0.274 | Destabilizing | 0.652 | D | 0.584 | neutral | N | 0.452830024 | None | None | N |
| G/W | 0.6059 | likely_pathogenic | 0.6288 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/Y | 0.6117 | likely_pathogenic | 0.6369 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.779 | 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.