Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24516 | 73771;73772;73773 | chr2:178572586;178572585;178572584 | chr2:179437313;179437312;179437311 |
| N2AB | 22875 | 68848;68849;68850 | chr2:178572586;178572585;178572584 | chr2:179437313;179437312;179437311 |
| N2A | 21948 | 66067;66068;66069 | chr2:178572586;178572585;178572584 | chr2:179437313;179437312;179437311 |
| N2B | 15451 | 46576;46577;46578 | chr2:178572586;178572585;178572584 | chr2:179437313;179437312;179437311 |
| Novex-1 | 15576 | 46951;46952;46953 | chr2:178572586;178572585;178572584 | chr2:179437313;179437312;179437311 |
| Novex-2 | 15643 | 47152;47153;47154 | chr2:178572586;178572585;178572584 | chr2:179437313;179437312;179437311 |
| 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/I | rs72646897  |
-0.801 | 0.997 | D | 0.748 | 0.479 | 0.828660227358 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.23998E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs72646897 |
-0.801 | 0.997 | D | 0.748 | 0.479 | 0.828660227358 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20662E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs72646897 |
-0.801 | 0.997 | D | 0.748 | 0.479 | 0.828660227358 | gnomAD-4.0.0 | 4.95865E-06 | None | None | None | None | N | None | 9.34679E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47735E-07 | 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 | 0.984 | likely_pathogenic | 0.9796 | pathogenic | -1.874 | Destabilizing | 0.999 | D | 0.78 | deleterious | D | 0.631055226 | None | None | N |
| V/C | 0.9887 | likely_pathogenic | 0.9876 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/D | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -2.387 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.631660639 | None | None | N |
| V/E | 0.9988 | likely_pathogenic | 0.998 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/F | 0.9912 | likely_pathogenic | 0.9859 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.631055226 | None | None | N |
| V/G | 0.9879 | likely_pathogenic | 0.9813 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.631660639 | None | None | N |
| V/H | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/I | 0.2233 | likely_benign | 0.2074 | benign | -0.954 | Destabilizing | 0.997 | D | 0.748 | deleterious | D | 0.527311295 | None | None | N |
| V/K | 0.9993 | likely_pathogenic | 0.9986 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/L | 0.9755 | likely_pathogenic | 0.9671 | pathogenic | -0.954 | Destabilizing | 0.997 | D | 0.788 | deleterious | D | 0.629037184 | None | None | N |
| V/M | 0.9796 | likely_pathogenic | 0.9714 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/N | 0.9975 | likely_pathogenic | 0.996 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/P | 0.9973 | likely_pathogenic | 0.9952 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/Q | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/R | 0.9982 | likely_pathogenic | 0.997 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/S | 0.9918 | likely_pathogenic | 0.9888 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/T | 0.9791 | likely_pathogenic | 0.9743 | pathogenic | -1.926 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| V/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/Y | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.892 | 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.