Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 2137 | 6634;6635;6636 | chr2:178775455;178775454;178775453 | chr2:179640182;179640181;179640180 |
N2AB | 2137 | 6634;6635;6636 | chr2:178775455;178775454;178775453 | chr2:179640182;179640181;179640180 |
N2A | 2137 | 6634;6635;6636 | chr2:178775455;178775454;178775453 | chr2:179640182;179640181;179640180 |
N2B | 2091 | 6496;6497;6498 | chr2:178775455;178775454;178775453 | chr2:179640182;179640181;179640180 |
Novex-1 | 2091 | 6496;6497;6498 | chr2:178775455;178775454;178775453 | chr2:179640182;179640181;179640180 |
Novex-2 | 2091 | 6496;6497;6498 | chr2:178775455;178775454;178775453 | chr2:179640182;179640181;179640180 |
Novex-3 | 2137 | 6634;6635;6636 | chr2:178775455;178775454;178775453 | chr2:179640182;179640181;179640180 |
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 | rs938420145 | None | 0.997 | N | 0.503 | 0.326 | 0.723809522663 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30959E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
V/I | rs938420145 | None | 0.997 | N | 0.503 | 0.326 | 0.723809522663 | gnomAD-4.0.0 | 6.56797E-06 | None | None | None | None | N | None | 0 | 6.53937E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
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 | 0.55 | ambiguous | 0.6384 | pathogenic | -2.527 | Highly Destabilizing | 0.999 | D | 0.566 | neutral | N | 0.499889212 | None | None | N |
V/C | 0.9085 | likely_pathogenic | 0.9172 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
V/D | 0.8896 | likely_pathogenic | 0.9324 | pathogenic | -3.391 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.502232157 | None | None | N |
V/E | 0.6985 | likely_pathogenic | 0.7792 | pathogenic | -3.157 | Highly Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
V/F | 0.4091 | ambiguous | 0.4893 | ambiguous | -1.535 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.497772335 | None | None | N |
V/G | 0.7096 | likely_pathogenic | 0.7784 | pathogenic | -3.0 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.651094739 | None | None | N |
V/H | 0.8134 | likely_pathogenic | 0.8678 | pathogenic | -2.78 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
V/I | 0.1063 | likely_benign | 0.1146 | benign | -1.163 | Destabilizing | 0.997 | D | 0.503 | neutral | N | 0.443433285 | None | None | N |
V/K | 0.7383 | likely_pathogenic | 0.8042 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
V/L | 0.3853 | ambiguous | 0.4621 | ambiguous | -1.163 | Destabilizing | 0.997 | D | 0.551 | neutral | N | 0.500223409 | None | None | N |
V/M | 0.3337 | likely_benign | 0.3874 | ambiguous | -1.195 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
V/N | 0.7153 | likely_pathogenic | 0.7897 | pathogenic | -2.64 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
V/P | 0.9954 | likely_pathogenic | 0.9966 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
V/Q | 0.625 | likely_pathogenic | 0.7039 | pathogenic | -2.445 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
V/R | 0.6693 | likely_pathogenic | 0.7395 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
V/S | 0.6224 | likely_pathogenic | 0.7147 | pathogenic | -3.107 | Highly Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
V/T | 0.5026 | ambiguous | 0.5772 | pathogenic | -2.767 | Highly Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
V/W | 0.9544 | likely_pathogenic | 0.969 | pathogenic | -2.127 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
V/Y | 0.8134 | likely_pathogenic | 0.8522 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.752 | 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.