Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3324 | 10195;10196;10197 | chr2:178764545;178764544;178764543 | chr2:179629272;179629271;179629270 |
| N2AB | 3324 | 10195;10196;10197 | chr2:178764545;178764544;178764543 | chr2:179629272;179629271;179629270 |
| N2A | 3324 | 10195;10196;10197 | chr2:178764545;178764544;178764543 | chr2:179629272;179629271;179629270 |
| N2B | 3278 | 10057;10058;10059 | chr2:178764545;178764544;178764543 | chr2:179629272;179629271;179629270 |
| Novex-1 | 3278 | 10057;10058;10059 | chr2:178764545;178764544;178764543 | chr2:179629272;179629271;179629270 |
| Novex-2 | 3278 | 10057;10058;10059 | chr2:178764545;178764544;178764543 | chr2:179629272;179629271;179629270 |
| Novex-3 | 3324 | 10195;10196;10197 | chr2:178764545;178764544;178764543 | chr2:179629272;179629271;179629270 |
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/P | None | None | 1.0 | D | 0.891 | 0.773 | 0.647281281799 | gnomAD-4.0.0 | 6.84085E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-05 | 0 |
| A/S | None | None | 1.0 | D | 0.605 | 0.56 | 0.458013479912 | gnomAD-4.0.0 | 2.05226E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79859E-06 | 0 | 1.65607E-05 |
| A/T | None | None | 1.0 | D | 0.729 | 0.524 | 0.491592572028 | gnomAD-4.0.0 | 2.05226E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5194E-05 | None | 0 | 0 | 1.79859E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8436 | likely_pathogenic | 0.8217 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| A/D | 0.9431 | likely_pathogenic | 0.9367 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.769539857 | None | None | N |
| A/E | 0.9636 | likely_pathogenic | 0.961 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/F | 0.9656 | likely_pathogenic | 0.9512 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| A/G | 0.3245 | likely_benign | 0.2134 | benign | -1.07 | Destabilizing | 1.0 | D | 0.589 | neutral | D | 0.544158546 | None | None | N |
| A/H | 0.9838 | likely_pathogenic | 0.9784 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| A/I | 0.8944 | likely_pathogenic | 0.8951 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/K | 0.9882 | likely_pathogenic | 0.986 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/L | 0.8664 | likely_pathogenic | 0.8327 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/M | 0.8855 | likely_pathogenic | 0.87 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/N | 0.9445 | likely_pathogenic | 0.9322 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| A/P | 0.995 | likely_pathogenic | 0.9916 | pathogenic | -0.09 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.769539857 | None | None | N |
| A/Q | 0.9576 | likely_pathogenic | 0.9476 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/R | 0.9656 | likely_pathogenic | 0.9589 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/S | 0.211 | likely_benign | 0.1996 | benign | -1.146 | Destabilizing | 1.0 | D | 0.605 | neutral | D | 0.601592833 | None | None | N |
| A/T | 0.3363 | likely_benign | 0.3697 | ambiguous | -0.943 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.551266807 | None | None | N |
| A/V | 0.5928 | likely_pathogenic | 0.6171 | pathogenic | -0.09 | Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.54450115 | None | None | N |
| A/W | 0.9973 | likely_pathogenic | 0.9957 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/Y | 0.9858 | likely_pathogenic | 0.9805 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.924 | 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.