Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3170 | 9733;9734;9735 | chr2:178766576;178766575;178766574 | chr2:179631303;179631302;179631301 |
| N2AB | 3170 | 9733;9734;9735 | chr2:178766576;178766575;178766574 | chr2:179631303;179631302;179631301 |
| N2A | 3170 | 9733;9734;9735 | chr2:178766576;178766575;178766574 | chr2:179631303;179631302;179631301 |
| N2B | 3124 | 9595;9596;9597 | chr2:178766576;178766575;178766574 | chr2:179631303;179631302;179631301 |
| Novex-1 | 3124 | 9595;9596;9597 | chr2:178766576;178766575;178766574 | chr2:179631303;179631302;179631301 |
| Novex-2 | 3124 | 9595;9596;9597 | chr2:178766576;178766575;178766574 | chr2:179631303;179631302;179631301 |
| Novex-3 | 3170 | 9733;9734;9735 | chr2:178766576;178766575;178766574 | chr2:179631303;179631302;179631301 |
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 | rs779339626  |
-2.3 | 0.999 | D | 0.588 | 0.697 | None | gnomAD-2.1.1 | 2.48E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.44E-05 | 0 |
| V/A | rs779339626 |
-2.3 | 0.999 | D | 0.588 | 0.697 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| V/A | rs779339626 |
-2.3 | 0.999 | D | 0.588 | 0.697 | None | gnomAD-4.0.0 | 6.13403E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.13562E-05 | 0 | 4.80184E-05 |
| V/L | None | None | 0.997 | D | 0.601 | 0.477 | 0.593829253334 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 | 0.9166 | likely_pathogenic | 0.9026 | pathogenic | -2.303 | Highly Destabilizing | 0.999 | D | 0.588 | neutral | D | 0.611926409 | None | None | N |
| V/C | 0.9742 | likely_pathogenic | 0.9756 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/D | 0.9956 | likely_pathogenic | 0.9944 | pathogenic | -3.2 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.692098059 | None | None | N |
| V/E | 0.9906 | likely_pathogenic | 0.988 | pathogenic | -3.036 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/F | 0.9764 | likely_pathogenic | 0.9569 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.692977925 | None | None | N |
| V/G | 0.899 | likely_pathogenic | 0.8785 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.692098059 | None | None | N |
| V/H | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -2.523 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/I | 0.3464 | ambiguous | 0.281 | benign | -0.959 | Destabilizing | 0.997 | D | 0.533 | neutral | D | 0.547440944 | None | None | N |
| V/K | 0.9945 | likely_pathogenic | 0.9934 | pathogenic | -2.073 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/L | 0.92 | likely_pathogenic | 0.869 | pathogenic | -0.959 | Destabilizing | 0.997 | D | 0.601 | neutral | D | 0.574002337 | None | None | N |
| V/M | 0.9198 | likely_pathogenic | 0.9009 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/N | 0.9877 | likely_pathogenic | 0.9862 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/P | 0.9981 | likely_pathogenic | 0.9962 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/Q | 0.994 | likely_pathogenic | 0.9932 | pathogenic | -2.218 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/R | 0.9918 | likely_pathogenic | 0.9891 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/S | 0.9623 | likely_pathogenic | 0.9627 | pathogenic | -2.809 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| V/T | 0.8878 | likely_pathogenic | 0.8847 | pathogenic | -2.526 | Highly Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| V/W | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/Y | 0.9969 | likely_pathogenic | 0.9944 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.848 | 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.