Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23027 | 69304;69305;69306 | chr2:178577256;178577255;178577254 | chr2:179441983;179441982;179441981 |
| N2AB | 21386 | 64381;64382;64383 | chr2:178577256;178577255;178577254 | chr2:179441983;179441982;179441981 |
| N2A | 20459 | 61600;61601;61602 | chr2:178577256;178577255;178577254 | chr2:179441983;179441982;179441981 |
| N2B | 13962 | 42109;42110;42111 | chr2:178577256;178577255;178577254 | chr2:179441983;179441982;179441981 |
| Novex-1 | 14087 | 42484;42485;42486 | chr2:178577256;178577255;178577254 | chr2:179441983;179441982;179441981 |
| Novex-2 | 14154 | 42685;42686;42687 | chr2:178577256;178577255;178577254 | chr2:179441983;179441982;179441981 |
| 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/D | rs780975029  |
None | 1.0 | D | 0.853 | 0.748 | 0.603824409933 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.7164 | likely_pathogenic | 0.7314 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.581798831 | None | None | I |
| G/C | 0.8792 | likely_pathogenic | 0.9027 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.624799294 | None | None | I |
| G/D | 0.9147 | likely_pathogenic | 0.939 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.593932114 | None | None | I |
| G/E | 0.9533 | likely_pathogenic | 0.9635 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/F | 0.9875 | likely_pathogenic | 0.9881 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/H | 0.9732 | likely_pathogenic | 0.9781 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/I | 0.9823 | likely_pathogenic | 0.9849 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/K | 0.9777 | likely_pathogenic | 0.9791 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/L | 0.9711 | likely_pathogenic | 0.9763 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/M | 0.9846 | likely_pathogenic | 0.9863 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/N | 0.9439 | likely_pathogenic | 0.956 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/Q | 0.9436 | likely_pathogenic | 0.9508 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/R | 0.9328 | likely_pathogenic | 0.9389 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.623790273 | None | None | I |
| G/S | 0.601 | likely_pathogenic | 0.6231 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.579336101 | None | None | I |
| G/T | 0.9335 | likely_pathogenic | 0.9424 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/V | 0.9671 | likely_pathogenic | 0.9725 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.624395685 | None | None | I |
| G/W | 0.981 | likely_pathogenic | 0.984 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/Y | 0.9813 | likely_pathogenic | 0.9833 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.834 | 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.