Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28437 | 85534;85535;85536 | chr2:178560823;178560822;178560821 | chr2:179425550;179425549;179425548 |
| N2AB | 26796 | 80611;80612;80613 | chr2:178560823;178560822;178560821 | chr2:179425550;179425549;179425548 |
| N2A | 25869 | 77830;77831;77832 | chr2:178560823;178560822;178560821 | chr2:179425550;179425549;179425548 |
| N2B | 19372 | 58339;58340;58341 | chr2:178560823;178560822;178560821 | chr2:179425550;179425549;179425548 |
| Novex-1 | 19497 | 58714;58715;58716 | chr2:178560823;178560822;178560821 | chr2:179425550;179425549;179425548 |
| Novex-2 | 19564 | 58915;58916;58917 | chr2:178560823;178560822;178560821 | chr2:179425550;179425549;179425548 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs757770952  |
-0.29 | 1.0 | D | 0.811 | 0.671 | 0.581344535356 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs757770952 |
-0.29 | 1.0 | D | 0.811 | 0.671 | 0.581344535356 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 1.96515E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| G/S | rs757770952 |
-0.29 | 1.0 | D | 0.811 | 0.671 | 0.581344535356 | gnomAD-4.0.0 | 7.4373E-06 | None | None | None | None | I | None | 1.33504E-05 | 8.33722E-05 | None | 0 | 0 | None | 0 | 0 | 4.23821E-06 | 0 | 1.60138E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8387 | likely_pathogenic | 0.7625 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.613141059 | None | None | I |
| G/C | 0.9401 | likely_pathogenic | 0.9104 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.639889996 | None | None | I |
| G/D | 0.9574 | likely_pathogenic | 0.93 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.638275562 | None | None | I |
| G/E | 0.9752 | likely_pathogenic | 0.9577 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/F | 0.9917 | likely_pathogenic | 0.9884 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/H | 0.988 | likely_pathogenic | 0.9802 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/I | 0.9913 | likely_pathogenic | 0.9868 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/K | 0.9873 | likely_pathogenic | 0.9799 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/L | 0.9865 | likely_pathogenic | 0.9789 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/M | 0.9913 | likely_pathogenic | 0.9852 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.9674 | likely_pathogenic | 0.9457 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/Q | 0.9761 | likely_pathogenic | 0.959 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/R | 0.9664 | likely_pathogenic | 0.9503 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.622861614 | None | None | I |
| G/S | 0.7373 | likely_pathogenic | 0.6414 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.612535646 | None | None | I |
| G/T | 0.9614 | likely_pathogenic | 0.9413 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/V | 0.9783 | likely_pathogenic | 0.9682 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.639486388 | None | None | I |
| G/W | 0.9853 | likely_pathogenic | 0.9787 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9879 | likely_pathogenic | 0.9818 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
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.