Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20209 | 60850;60851;60852 | chr2:178591100;178591099;178591098 | chr2:179455827;179455826;179455825 |
| N2AB | 18568 | 55927;55928;55929 | chr2:178591100;178591099;178591098 | chr2:179455827;179455826;179455825 |
| N2A | 17641 | 53146;53147;53148 | chr2:178591100;178591099;178591098 | chr2:179455827;179455826;179455825 |
| N2B | 11144 | 33655;33656;33657 | chr2:178591100;178591099;178591098 | chr2:179455827;179455826;179455825 |
| Novex-1 | 11269 | 34030;34031;34032 | chr2:178591100;178591099;178591098 | chr2:179455827;179455826;179455825 |
| Novex-2 | 11336 | 34231;34232;34233 | chr2:178591100;178591099;178591098 | chr2:179455827;179455826;179455825 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1163844137  |
-2.281 | 0.998 | D | 0.617 | 0.546 | 0.65752205066 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/A | rs1163844137 |
-2.281 | 0.998 | D | 0.617 | 0.546 | 0.65752205066 | gnomAD-4.0.0 | 2.73759E-06 | None | None | None | None | N | None | 2.99043E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6989E-06 | 0 | 0 |
| V/G | rs1163844137 |
-3.1 | 1.0 | D | 0.874 | 0.655 | 0.829325791028 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/G | rs1163844137 |
-3.1 | 1.0 | D | 0.874 | 0.655 | 0.829325791028 | gnomAD-4.0.0 | 1.36879E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79927E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6841 | likely_pathogenic | 0.752 | pathogenic | -2.142 | Highly Destabilizing | 0.998 | D | 0.617 | neutral | D | 0.542135596 | None | None | N |
| V/C | 0.9464 | likely_pathogenic | 0.9557 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/D | 0.996 | likely_pathogenic | 0.9983 | pathogenic | -2.853 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.55425237 | None | None | N |
| V/E | 0.9857 | likely_pathogenic | 0.9928 | pathogenic | -2.533 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/F | 0.7395 | likely_pathogenic | 0.8291 | pathogenic | -1.214 | Destabilizing | 0.999 | D | 0.819 | deleterious | D | 0.553998881 | None | None | N |
| V/G | 0.913 | likely_pathogenic | 0.9526 | pathogenic | -2.777 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.55425237 | None | None | N |
| V/H | 0.9951 | likely_pathogenic | 0.9973 | pathogenic | -2.692 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/I | 0.0885 | likely_benign | 0.0867 | benign | -0.315 | Destabilizing | 0.767 | D | 0.288 | neutral | N | 0.488740259 | None | None | N |
| V/K | 0.9892 | likely_pathogenic | 0.9938 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| V/L | 0.459 | ambiguous | 0.485 | ambiguous | -0.315 | Destabilizing | 0.981 | D | 0.569 | neutral | N | 0.502597777 | None | None | N |
| V/M | 0.5459 | ambiguous | 0.6183 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| V/N | 0.9909 | likely_pathogenic | 0.9954 | pathogenic | -2.392 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/P | 0.9821 | likely_pathogenic | 0.9906 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/Q | 0.9837 | likely_pathogenic | 0.9908 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/R | 0.9797 | likely_pathogenic | 0.9881 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/S | 0.9438 | likely_pathogenic | 0.9666 | pathogenic | -2.995 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/T | 0.7328 | likely_pathogenic | 0.7823 | pathogenic | -2.498 | Highly Destabilizing | 0.998 | D | 0.68 | prob.neutral | None | None | None | None | N |
| V/W | 0.9915 | likely_pathogenic | 0.9953 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| V/Y | 0.9783 | likely_pathogenic | 0.9867 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.826 | 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.