Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32439 | 97540;97541;97542 | chr2:178542441;178542440;178542439 | chr2:179407168;179407167;179407166 |
| N2AB | 30798 | 92617;92618;92619 | chr2:178542441;178542440;178542439 | chr2:179407168;179407167;179407166 |
| N2A | 29871 | 89836;89837;89838 | chr2:178542441;178542440;178542439 | chr2:179407168;179407167;179407166 |
| N2B | 23374 | 70345;70346;70347 | chr2:178542441;178542440;178542439 | chr2:179407168;179407167;179407166 |
| Novex-1 | 23499 | 70720;70721;70722 | chr2:178542441;178542440;178542439 | chr2:179407168;179407167;179407166 |
| Novex-2 | 23566 | 70921;70922;70923 | chr2:178542441;178542440;178542439 | chr2:179407168;179407167;179407166 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | rs767837705  |
-0.525 | 0.997 | N | 0.707 | 0.442 | 0.235038932564 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| Q/K | rs767837705 |
-0.525 | 0.997 | N | 0.707 | 0.442 | 0.235038932564 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/K | rs767837705 |
-0.525 | 0.997 | N | 0.707 | 0.442 | 0.235038932564 | gnomAD-4.0.0 | 6.40674E-06 | None | None | None | None | N | None | 1.69182E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1803E-06 | 0 | 2.84479E-05 |
| Q/R | None | None | 0.997 | N | 0.715 | 0.349 | 0.233785782151 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.6341 | likely_pathogenic | 0.6458 | pathogenic | -0.562 | Destabilizing | 0.997 | D | 0.696 | prob.neutral | None | None | None | None | N |
| Q/C | 0.8437 | likely_pathogenic | 0.8483 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Q/D | 0.9852 | likely_pathogenic | 0.9855 | pathogenic | -2.49 | Highly Destabilizing | 0.997 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Q/E | 0.347 | ambiguous | 0.3253 | benign | -2.117 | Highly Destabilizing | 0.992 | D | 0.676 | prob.neutral | N | 0.46492355 | None | None | N |
| Q/F | 0.9244 | likely_pathogenic | 0.9283 | pathogenic | -0.229 | Destabilizing | 0.999 | D | 0.874 | deleterious | None | None | None | None | N |
| Q/G | 0.817 | likely_pathogenic | 0.8219 | pathogenic | -1.003 | Destabilizing | 0.997 | D | 0.761 | deleterious | None | None | None | None | N |
| Q/H | 0.7555 | likely_pathogenic | 0.7425 | pathogenic | -0.45 | Destabilizing | 0.999 | D | 0.815 | deleterious | N | 0.47580546 | None | None | N |
| Q/I | 0.6772 | likely_pathogenic | 0.7005 | pathogenic | 0.686 | Stabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | N |
| Q/K | 0.306 | likely_benign | 0.2998 | benign | 0.2 | Stabilizing | 0.997 | D | 0.707 | prob.neutral | N | 0.33379463 | None | None | N |
| Q/L | 0.4005 | ambiguous | 0.39 | ambiguous | 0.686 | Stabilizing | 0.997 | D | 0.761 | deleterious | N | 0.461161295 | None | None | N |
| Q/M | 0.4263 | ambiguous | 0.4565 | ambiguous | 0.403 | Stabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| Q/N | 0.8733 | likely_pathogenic | 0.884 | pathogenic | -1.036 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| Q/P | 0.9896 | likely_pathogenic | 0.9925 | pathogenic | 0.289 | Stabilizing | 0.999 | D | 0.82 | deleterious | N | 0.476279855 | None | None | N |
| Q/R | 0.44 | ambiguous | 0.4103 | ambiguous | -0.229 | Destabilizing | 0.997 | D | 0.715 | prob.delet. | N | 0.393400294 | None | None | N |
| Q/S | 0.7333 | likely_pathogenic | 0.7344 | pathogenic | -1.217 | Destabilizing | 0.997 | D | 0.694 | prob.neutral | None | None | None | None | N |
| Q/T | 0.6477 | likely_pathogenic | 0.6684 | pathogenic | -0.672 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| Q/V | 0.5656 | likely_pathogenic | 0.5852 | pathogenic | 0.289 | Stabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| Q/W | 0.9448 | likely_pathogenic | 0.9408 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| Q/Y | 0.8533 | likely_pathogenic | 0.8468 | pathogenic | 0.096 | Stabilizing | 0.999 | D | 0.831 | 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.