Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30110 | 90553;90554;90555 | chr2:178552572;178552571;178552570 | chr2:179417299;179417298;179417297 |
| N2AB | 28469 | 85630;85631;85632 | chr2:178552572;178552571;178552570 | chr2:179417299;179417298;179417297 |
| N2A | 27542 | 82849;82850;82851 | chr2:178552572;178552571;178552570 | chr2:179417299;179417298;179417297 |
| N2B | 21045 | 63358;63359;63360 | chr2:178552572;178552571;178552570 | chr2:179417299;179417298;179417297 |
| Novex-1 | 21170 | 63733;63734;63735 | chr2:178552572;178552571;178552570 | chr2:179417299;179417298;179417297 |
| Novex-2 | 21237 | 63934;63935;63936 | chr2:178552572;178552571;178552570 | chr2:179417299;179417298;179417297 |
| 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/E | None | None | 1.0 | D | 0.875 | 0.56 | 0.655550007185 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85807E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.729 | likely_pathogenic | 0.7188 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.545673406 | None | None | I |
| G/C | 0.8952 | likely_pathogenic | 0.8897 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/D | 0.9085 | likely_pathogenic | 0.8993 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/E | 0.9395 | likely_pathogenic | 0.9391 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.546180385 | None | None | I |
| G/F | 0.9774 | likely_pathogenic | 0.972 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/H | 0.979 | likely_pathogenic | 0.9773 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/I | 0.9587 | likely_pathogenic | 0.9509 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/K | 0.9787 | likely_pathogenic | 0.98 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/L | 0.9603 | likely_pathogenic | 0.9555 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/M | 0.9689 | likely_pathogenic | 0.9649 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/N | 0.9321 | likely_pathogenic | 0.9304 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/P | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/Q | 0.9572 | likely_pathogenic | 0.9593 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/R | 0.9621 | likely_pathogenic | 0.9629 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.557536691 | None | None | I |
| G/S | 0.7009 | likely_pathogenic | 0.6916 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/T | 0.9016 | likely_pathogenic | 0.8991 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/V | 0.927 | likely_pathogenic | 0.9159 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.530531666 | None | None | I |
| G/W | 0.9721 | likely_pathogenic | 0.9673 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/Y | 0.9522 | likely_pathogenic | 0.9432 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.865 | 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.