Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1878 | 5857;5858;5859 | chr2:178776232;178776231;178776230 | chr2:179640959;179640958;179640957 |
| N2AB | 1878 | 5857;5858;5859 | chr2:178776232;178776231;178776230 | chr2:179640959;179640958;179640957 |
| N2A | 1878 | 5857;5858;5859 | chr2:178776232;178776231;178776230 | chr2:179640959;179640958;179640957 |
| N2B | 1832 | 5719;5720;5721 | chr2:178776232;178776231;178776230 | chr2:179640959;179640958;179640957 |
| Novex-1 | 1832 | 5719;5720;5721 | chr2:178776232;178776231;178776230 | chr2:179640959;179640958;179640957 |
| Novex-2 | 1832 | 5719;5720;5721 | chr2:178776232;178776231;178776230 | chr2:179640959;179640958;179640957 |
| Novex-3 | 1878 | 5857;5858;5859 | chr2:178776232;178776231;178776230 | chr2:179640959;179640958;179640957 |
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/E | rs745311218  |
-0.771 | 0.999 | N | 0.717 | 0.488 | 0.343788945184 | gnomAD-2.1.1 | 1.06E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.33E-05 | 0 |
| G/E | rs745311218 |
-0.771 | 0.999 | N | 0.717 | 0.488 | 0.343788945184 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/E | rs745311218 |
-0.771 | 0.999 | N | 0.717 | 0.488 | 0.343788945184 | gnomAD-4.0.0 | 1.30108E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.77964E-05 | 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 | 0.6862 | likely_pathogenic | 0.6912 | pathogenic | -0.471 | Destabilizing | 0.991 | D | 0.501 | neutral | D | 0.528166787 | None | None | I |
| G/C | 0.8663 | likely_pathogenic | 0.8636 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/D | 0.5868 | likely_pathogenic | 0.5664 | pathogenic | -0.87 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/E | 0.7391 | likely_pathogenic | 0.7285 | pathogenic | -1.009 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | N | 0.499960342 | None | None | I |
| G/F | 0.9858 | likely_pathogenic | 0.9842 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/H | 0.8209 | likely_pathogenic | 0.8075 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| G/I | 0.9797 | likely_pathogenic | 0.9819 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/K | 0.883 | likely_pathogenic | 0.8797 | pathogenic | -1.096 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | I |
| G/L | 0.9625 | likely_pathogenic | 0.9657 | pathogenic | -0.452 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | I |
| G/M | 0.9617 | likely_pathogenic | 0.9621 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/N | 0.4439 | ambiguous | 0.4298 | ambiguous | -0.635 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -0.422 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | I |
| G/Q | 0.6871 | likely_pathogenic | 0.6733 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| G/R | 0.8359 | likely_pathogenic | 0.8168 | pathogenic | -0.616 | Destabilizing | 0.999 | D | 0.763 | deleterious | D | 0.582037736 | None | None | I |
| G/S | 0.2151 | likely_benign | 0.2052 | benign | -0.777 | Destabilizing | 0.896 | D | 0.587 | neutral | None | None | None | None | I |
| G/T | 0.7677 | likely_pathogenic | 0.7751 | pathogenic | -0.851 | Destabilizing | 0.998 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/V | 0.962 | likely_pathogenic | 0.9655 | pathogenic | -0.422 | Destabilizing | 0.999 | D | 0.771 | deleterious | D | 0.699181793 | None | None | I |
| G/W | 0.9711 | likely_pathogenic | 0.9658 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/Y | 0.9579 | likely_pathogenic | 0.9547 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
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.