Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32324 | 97195;97196;97197 | chr2:178542884;178542883;178542882 | chr2:179407611;179407610;179407609 |
| N2AB | 30683 | 92272;92273;92274 | chr2:178542884;178542883;178542882 | chr2:179407611;179407610;179407609 |
| N2A | 29756 | 89491;89492;89493 | chr2:178542884;178542883;178542882 | chr2:179407611;179407610;179407609 |
| N2B | 23259 | 70000;70001;70002 | chr2:178542884;178542883;178542882 | chr2:179407611;179407610;179407609 |
| Novex-1 | 23384 | 70375;70376;70377 | chr2:178542884;178542883;178542882 | chr2:179407611;179407610;179407609 |
| Novex-2 | 23451 | 70576;70577;70578 | chr2:178542884;178542883;178542882 | chr2:179407611;179407610;179407609 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs760371027  |
-2.017 | 0.052 | N | 0.597 | 0.194 | 0.335414705075 | gnomAD-2.1.1 | 4.04E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 4.65E-05 | 5.38E-05 | 0 |
| V/A | rs760371027 |
-2.017 | 0.052 | N | 0.597 | 0.194 | 0.335414705075 | 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 |
| V/A | rs760371027 |
-2.017 | 0.052 | N | 0.597 | 0.194 | 0.335414705075 | gnomAD-4.0.0 | 1.48743E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.865E-05 | 2.19621E-05 | 0 |
| V/I | rs1454125243 |
-0.439 | None | N | 0.185 | 0.091 | 0.134241683229 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| V/I | rs1454125243 |
-0.439 | None | N | 0.185 | 0.091 | 0.134241683229 | gnomAD-4.0.0 | 3.1832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71863E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3968 | ambiguous | 0.3022 | benign | -2.041 | Highly Destabilizing | 0.052 | N | 0.597 | neutral | N | 0.473660871 | None | None | N |
| V/C | 0.8175 | likely_pathogenic | 0.8039 | pathogenic | -1.608 | Destabilizing | 0.935 | D | 0.722 | prob.delet. | None | None | None | None | N |
| V/D | 0.9835 | likely_pathogenic | 0.9639 | pathogenic | -2.785 | Highly Destabilizing | 0.555 | D | 0.781 | deleterious | None | None | None | None | N |
| V/E | 0.9585 | likely_pathogenic | 0.9227 | pathogenic | -2.537 | Highly Destabilizing | 0.484 | N | 0.741 | deleterious | N | 0.492085797 | None | None | N |
| V/F | 0.3839 | ambiguous | 0.2839 | benign | -1.216 | Destabilizing | 0.38 | N | 0.757 | deleterious | None | None | None | None | N |
| V/G | 0.7648 | likely_pathogenic | 0.6595 | pathogenic | -2.605 | Highly Destabilizing | 0.484 | N | 0.75 | deleterious | N | 0.480564907 | None | None | N |
| V/H | 0.9774 | likely_pathogenic | 0.9568 | pathogenic | -2.352 | Highly Destabilizing | 0.935 | D | 0.757 | deleterious | None | None | None | None | N |
| V/I | 0.0694 | likely_benign | 0.0694 | benign | -0.458 | Destabilizing | None | N | 0.185 | neutral | N | 0.452960312 | None | None | N |
| V/K | 0.9671 | likely_pathogenic | 0.931 | pathogenic | -1.88 | Destabilizing | 0.555 | D | 0.742 | deleterious | None | None | None | None | N |
| V/L | 0.1633 | likely_benign | 0.1356 | benign | -0.458 | Destabilizing | 0.004 | N | 0.394 | neutral | N | 0.444300756 | None | None | N |
| V/M | 0.1889 | likely_benign | 0.1557 | benign | -0.496 | Destabilizing | 0.38 | N | 0.657 | neutral | None | None | None | None | N |
| V/N | 0.9386 | likely_pathogenic | 0.8937 | pathogenic | -2.296 | Highly Destabilizing | 0.791 | D | 0.784 | deleterious | None | None | None | None | N |
| V/P | 0.9531 | likely_pathogenic | 0.9236 | pathogenic | -0.96 | Destabilizing | 0.791 | D | 0.756 | deleterious | None | None | None | None | N |
| V/Q | 0.9437 | likely_pathogenic | 0.8976 | pathogenic | -2.097 | Highly Destabilizing | 0.791 | D | 0.74 | deleterious | None | None | None | None | N |
| V/R | 0.9432 | likely_pathogenic | 0.8896 | pathogenic | -1.738 | Destabilizing | 0.555 | D | 0.78 | deleterious | None | None | None | None | N |
| V/S | 0.7869 | likely_pathogenic | 0.6846 | pathogenic | -2.897 | Highly Destabilizing | 0.555 | D | 0.736 | prob.delet. | None | None | None | None | N |
| V/T | 0.4781 | ambiguous | 0.3716 | ambiguous | -2.492 | Highly Destabilizing | 0.149 | N | 0.614 | neutral | None | None | None | None | N |
| V/W | 0.9674 | likely_pathogenic | 0.9376 | pathogenic | -1.756 | Destabilizing | 0.935 | D | 0.76 | deleterious | None | None | None | None | N |
| V/Y | 0.9182 | likely_pathogenic | 0.8583 | pathogenic | -1.336 | Destabilizing | 0.555 | D | 0.772 | 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.