Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31314 | 94165;94166;94167 | chr2:178547686;178547685;178547684 | chr2:179412413;179412412;179412411 |
| N2AB | 29673 | 89242;89243;89244 | chr2:178547686;178547685;178547684 | chr2:179412413;179412412;179412411 |
| N2A | 28746 | 86461;86462;86463 | chr2:178547686;178547685;178547684 | chr2:179412413;179412412;179412411 |
| N2B | 22249 | 66970;66971;66972 | chr2:178547686;178547685;178547684 | chr2:179412413;179412412;179412411 |
| Novex-1 | 22374 | 67345;67346;67347 | chr2:178547686;178547685;178547684 | chr2:179412413;179412412;179412411 |
| Novex-2 | 22441 | 67546;67547;67548 | chr2:178547686;178547685;178547684 | chr2:179412413;179412412;179412411 |
| 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 | rs368608059  |
-0.868 | 1.0 | N | 0.739 | 0.24 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/S | rs368608059 |
-0.868 | 1.0 | N | 0.739 | 0.24 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs368608059 |
-0.868 | 1.0 | N | 0.739 | 0.24 | None | gnomAD-4.0.0 | 9.29436E-06 | None | None | None | None | N | None | 6.66418E-05 | 0 | None | 0 | 2.22926E-05 | None | 0 | 0 | 6.78064E-06 | 0 | 1.60046E-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 | 0.2803 | likely_benign | 0.3378 | benign | -0.251 | Destabilizing | 0.995 | D | 0.651 | neutral | N | 0.466202727 | None | None | N |
| G/C | 0.5733 | likely_pathogenic | 0.6156 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.513224564 | None | None | N |
| G/D | 0.6936 | likely_pathogenic | 0.7199 | pathogenic | -0.334 | Destabilizing | 0.999 | D | 0.831 | deleterious | N | 0.451577511 | None | None | N |
| G/E | 0.642 | likely_pathogenic | 0.6751 | pathogenic | -0.477 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| G/F | 0.8603 | likely_pathogenic | 0.8886 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/H | 0.8434 | likely_pathogenic | 0.8606 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/I | 0.7543 | likely_pathogenic | 0.7862 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/K | 0.7833 | likely_pathogenic | 0.8168 | pathogenic | -0.76 | Destabilizing | 0.998 | D | 0.802 | deleterious | None | None | None | None | N |
| G/L | 0.7375 | likely_pathogenic | 0.7979 | pathogenic | -0.36 | Destabilizing | 0.999 | D | 0.874 | deleterious | None | None | None | None | N |
| G/M | 0.8339 | likely_pathogenic | 0.8706 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/N | 0.7234 | likely_pathogenic | 0.7482 | pathogenic | -0.487 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| G/P | 0.7341 | likely_pathogenic | 0.7661 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/Q | 0.7554 | likely_pathogenic | 0.7909 | pathogenic | -0.705 | Destabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
| G/R | 0.7137 | likely_pathogenic | 0.741 | pathogenic | -0.372 | Destabilizing | 0.899 | D | 0.614 | neutral | N | 0.470975667 | None | None | N |
| G/S | 0.2677 | likely_benign | 0.2978 | benign | -0.678 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.515411493 | None | None | N |
| G/T | 0.5589 | ambiguous | 0.5826 | pathogenic | -0.737 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| G/V | 0.6422 | likely_pathogenic | 0.6791 | pathogenic | -0.292 | Destabilizing | 0.999 | D | 0.881 | deleterious | N | 0.495627288 | None | None | N |
| G/W | 0.8069 | likely_pathogenic | 0.8286 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/Y | 0.7994 | likely_pathogenic | 0.8357 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.874 | 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.