Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28229 | 84910;84911;84912 | chr2:178561447;178561446;178561445 | chr2:179426174;179426173;179426172 |
| N2AB | 26588 | 79987;79988;79989 | chr2:178561447;178561446;178561445 | chr2:179426174;179426173;179426172 |
| N2A | 25661 | 77206;77207;77208 | chr2:178561447;178561446;178561445 | chr2:179426174;179426173;179426172 |
| N2B | 19164 | 57715;57716;57717 | chr2:178561447;178561446;178561445 | chr2:179426174;179426173;179426172 |
| Novex-1 | 19289 | 58090;58091;58092 | chr2:178561447;178561446;178561445 | chr2:179426174;179426173;179426172 |
| Novex-2 | 19356 | 58291;58292;58293 | chr2:178561447;178561446;178561445 | chr2:179426174;179426173;179426172 |
| 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 | None | None | 0.999 | D | 0.675 | 0.784 | 0.796204263899 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| V/I | rs747518737  |
-0.52 | 0.997 | N | 0.643 | 0.447 | 0.726824630456 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs747518737 |
-0.52 | 0.997 | N | 0.643 | 0.447 | 0.726824630456 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.6201 | likely_pathogenic | 0.6323 | pathogenic | -2.602 | Highly Destabilizing | 0.999 | D | 0.675 | neutral | D | 0.538654374 | None | None | N |
| V/C | 0.9338 | likely_pathogenic | 0.9346 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| V/D | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -3.42 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/E | 0.9928 | likely_pathogenic | 0.9924 | pathogenic | -3.116 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.636912935 | None | None | N |
| V/F | 0.9585 | likely_pathogenic | 0.9552 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/G | 0.8757 | likely_pathogenic | 0.8647 | pathogenic | -3.172 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.636912935 | None | None | N |
| V/H | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -2.916 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/I | 0.1389 | likely_benign | 0.1337 | benign | -0.925 | Destabilizing | 0.997 | D | 0.643 | neutral | N | 0.490486312 | None | None | N |
| V/K | 0.9969 | likely_pathogenic | 0.9966 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/L | 0.7994 | likely_pathogenic | 0.7772 | pathogenic | -0.925 | Destabilizing | 0.997 | D | 0.693 | prob.neutral | N | 0.520279722 | None | None | N |
| V/M | 0.8305 | likely_pathogenic | 0.8225 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/N | 0.9861 | likely_pathogenic | 0.985 | pathogenic | -2.658 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/P | 0.996 | likely_pathogenic | 0.995 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/Q | 0.9926 | likely_pathogenic | 0.9924 | pathogenic | -2.32 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/R | 0.9914 | likely_pathogenic | 0.9911 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/S | 0.8925 | likely_pathogenic | 0.8892 | pathogenic | -3.161 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/T | 0.7327 | likely_pathogenic | 0.7016 | pathogenic | -2.715 | Highly Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.871 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/Y | 0.9957 | likely_pathogenic | 0.9955 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.835 | 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.