Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 123 | 592;593;594 | chr2:178800611;178800610;178800609 | chr2:179665338;179665337;179665336 |
| N2AB | 123 | 592;593;594 | chr2:178800611;178800610;178800609 | chr2:179665338;179665337;179665336 |
| N2A | 123 | 592;593;594 | chr2:178800611;178800610;178800609 | chr2:179665338;179665337;179665336 |
| N2B | 123 | 592;593;594 | chr2:178800611;178800610;178800609 | chr2:179665338;179665337;179665336 |
| Novex-1 | 123 | 592;593;594 | chr2:178800611;178800610;178800609 | chr2:179665338;179665337;179665336 |
| Novex-2 | 123 | 592;593;594 | chr2:178800611;178800610;178800609 | chr2:179665338;179665337;179665336 |
| Novex-3 | 123 | 592;593;594 | chr2:178800611;178800610;178800609 | chr2:179665338;179665337;179665336 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs890453511  |
None | 1.0 | N | 0.777 | 0.546 | 0.711221558017 | gnomAD-4.0.0 | 2.05324E-06 | None | None | None | -0.484(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69908E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.986 | likely_pathogenic | 0.991 | pathogenic | -2.326 | Highly Destabilizing | 1.0 | D | 0.708 | prob.neutral | None | None | None | -0.638(TCAP) | N |
| L/C | 0.9855 | likely_pathogenic | 0.9905 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | -0.195(TCAP) | N |
| L/D | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -2.956 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | -0.081(TCAP) | N |
| L/E | 0.9975 | likely_pathogenic | 0.9983 | pathogenic | -2.658 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | -0.15(TCAP) | N |
| L/F | 0.5619 | ambiguous | 0.6496 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.47522804 | None | -0.484(TCAP) | N |
| L/G | 0.9955 | likely_pathogenic | 0.997 | pathogenic | -2.893 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | -0.584(TCAP) | N |
| L/H | 0.9913 | likely_pathogenic | 0.9945 | pathogenic | -2.5 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.761574277 | None | 0.239(TCAP) | N |
| L/I | 0.4505 | ambiguous | 0.535 | ambiguous | -0.644 | Destabilizing | 0.99 | D | 0.654 | neutral | D | 0.569206892 | None | -0.797(TCAP) | N |
| L/K | 0.9929 | likely_pathogenic | 0.9951 | pathogenic | -1.887 | Destabilizing | 0.996 | D | 0.868 | deleterious | None | None | None | -0.399(TCAP) | N |
| L/M | 0.4398 | ambiguous | 0.5217 | ambiguous | -0.755 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | -0.437(TCAP) | N |
| L/N | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -2.502 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | -0.501(TCAP) | N |
| L/P | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -1.192 | Destabilizing | 0.924 | D | 0.702 | prob.neutral | D | 0.761574277 | None | -0.745(TCAP) | N |
| L/Q | 0.9861 | likely_pathogenic | 0.9914 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | -0.421(TCAP) | N |
| L/R | 0.9882 | likely_pathogenic | 0.9923 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.761574277 | None | -0.348(TCAP) | N |
| L/S | 0.9978 | likely_pathogenic | 0.9986 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | -0.247(TCAP) | N |
| L/T | 0.9931 | likely_pathogenic | 0.9956 | pathogenic | -2.628 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | -0.323(TCAP) | N |
| L/V | 0.6957 | likely_pathogenic | 0.7696 | pathogenic | -1.192 | Destabilizing | 0.992 | D | 0.673 | neutral | D | 0.63469932 | None | -0.745(TCAP) | N |
| L/W | 0.9436 | likely_pathogenic | 0.9666 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | -0.539(TCAP) | N |
| L/Y | 0.9611 | likely_pathogenic | 0.9757 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | -0.525(TCAP) | 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.