Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1779 | 5560;5561;5562 | chr2:178776529;178776528;178776527 | chr2:179641256;179641255;179641254 |
| N2AB | 1779 | 5560;5561;5562 | chr2:178776529;178776528;178776527 | chr2:179641256;179641255;179641254 |
| N2A | 1779 | 5560;5561;5562 | chr2:178776529;178776528;178776527 | chr2:179641256;179641255;179641254 |
| N2B | 1733 | 5422;5423;5424 | chr2:178776529;178776528;178776527 | chr2:179641256;179641255;179641254 |
| Novex-1 | 1733 | 5422;5423;5424 | chr2:178776529;178776528;178776527 | chr2:179641256;179641255;179641254 |
| Novex-2 | 1733 | 5422;5423;5424 | chr2:178776529;178776528;178776527 | chr2:179641256;179641255;179641254 |
| Novex-3 | 1779 | 5560;5561;5562 | chr2:178776529;178776528;178776527 | chr2:179641256;179641255;179641254 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs1335516732  |
-0.358 | 1.0 | D | 0.65 | 0.655 | 0.662550749481 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| A/V | rs1335516732 |
-0.358 | 1.0 | D | 0.65 | 0.655 | 0.662550749481 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9433 | likely_pathogenic | 0.9273 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| A/D | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -3.052 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.845020166 | None | None | N |
| A/E | 0.9979 | likely_pathogenic | 0.9973 | pathogenic | -2.884 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/F | 0.9925 | likely_pathogenic | 0.991 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| A/G | 0.6133 | likely_pathogenic | 0.5965 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.582 | neutral | D | 0.74761711 | None | None | N |
| A/H | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| A/I | 0.9585 | likely_pathogenic | 0.9432 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/L | 0.9318 | likely_pathogenic | 0.9181 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/M | 0.9739 | likely_pathogenic | 0.9687 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/N | 0.9975 | likely_pathogenic | 0.9966 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| A/P | 0.9972 | likely_pathogenic | 0.9964 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.845661497 | None | None | N |
| A/Q | 0.9962 | likely_pathogenic | 0.9944 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/R | 0.997 | likely_pathogenic | 0.9956 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/S | 0.6402 | likely_pathogenic | 0.6033 | pathogenic | -2.218 | Highly Destabilizing | 1.0 | D | 0.581 | neutral | D | 0.791853928 | None | None | N |
| A/T | 0.8938 | likely_pathogenic | 0.8725 | pathogenic | -1.952 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.846538619 | None | None | N |
| A/V | 0.7947 | likely_pathogenic | 0.7436 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.65 | neutral | D | 0.609724234 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/Y | 0.9982 | likely_pathogenic | 0.9975 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.92 | 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.