Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30788 | 92587;92588;92589 | chr2:178549264;178549263;178549262 | chr2:179413991;179413990;179413989 |
| N2AB | 29147 | 87664;87665;87666 | chr2:178549264;178549263;178549262 | chr2:179413991;179413990;179413989 |
| N2A | 28220 | 84883;84884;84885 | chr2:178549264;178549263;178549262 | chr2:179413991;179413990;179413989 |
| N2B | 21723 | 65392;65393;65394 | chr2:178549264;178549263;178549262 | chr2:179413991;179413990;179413989 |
| Novex-1 | 21848 | 65767;65768;65769 | chr2:178549264;178549263;178549262 | chr2:179413991;179413990;179413989 |
| Novex-2 | 21915 | 65968;65969;65970 | chr2:178549264;178549263;178549262 | chr2:179413991;179413990;179413989 |
| 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 | rs754125601  |
-1.683 | 1.0 | N | 0.827 | 0.443 | 0.363356657567 | gnomAD-2.1.1 | 2.81E-05 | None | None | None | None | N | None | 0 | 1.73923E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| G/D | rs754125601 |
-1.683 | 1.0 | N | 0.827 | 0.443 | 0.363356657567 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 3.92824E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs754125601 |
-1.683 | 1.0 | N | 0.827 | 0.443 | 0.363356657567 | gnomAD-4.0.0 | 2.17765E-05 | None | None | None | None | N | None | 0 | 2.03369E-04 | None | 0 | 0 | None | 0 | 0 | 1.19635E-05 | 0 | 0 |
| G/S | rs199891245 |
-1.12 | 1.0 | N | 0.8 | 0.482 | None | gnomAD-2.1.1 | 6.88013E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.10256E-04 | None | 0 | None | 4.91528E-03 | 3.73907E-04 | 1.96353E-03 |
| G/S | rs199891245 |
-1.12 | 1.0 | N | 0.8 | 0.482 | None | gnomAD-3.1.2 | 4.99415E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85356E-04 | None | 5.55765E-03 | 0 | 2.20484E-04 | 0 | 0 |
| G/S | rs199891245 |
-1.12 | 1.0 | N | 0.8 | 0.482 | None | gnomAD-4.0.0 | 3.66837E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67135E-03 | None | 5.59235E-03 | 0 | 9.40791E-05 | 0 | 7.68467E-04 |
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 | 0.295 | likely_benign | 0.2905 | benign | -0.593 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.502054929 | None | None | N |
| G/C | 0.3418 | ambiguous | 0.3331 | benign | -0.879 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.560041452 | None | None | N |
| G/D | 0.2205 | likely_benign | 0.2103 | benign | -1.244 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.502421632 | None | None | N |
| G/E | 0.3452 | ambiguous | 0.3274 | benign | -1.398 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/F | 0.7116 | likely_pathogenic | 0.7054 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/H | 0.5151 | ambiguous | 0.5132 | ambiguous | -0.889 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/I | 0.6801 | likely_pathogenic | 0.6455 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/K | 0.6575 | likely_pathogenic | 0.611 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/L | 0.6493 | likely_pathogenic | 0.6318 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/M | 0.63 | likely_pathogenic | 0.6121 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/N | 0.2004 | likely_benign | 0.1938 | benign | -0.745 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/P | 0.9764 | likely_pathogenic | 0.9712 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/Q | 0.4775 | ambiguous | 0.4579 | ambiguous | -1.1 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/R | 0.5695 | likely_pathogenic | 0.5323 | ambiguous | -0.593 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.526680098 | None | None | N |
| G/S | 0.1518 | likely_benign | 0.1496 | benign | -0.866 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.492482596 | None | None | N |
| G/T | 0.3417 | ambiguous | 0.3129 | benign | -0.967 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/V | 0.5643 | likely_pathogenic | 0.5352 | ambiguous | -0.562 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.541430218 | None | None | N |
| G/W | 0.5378 | ambiguous | 0.5168 | ambiguous | -1.416 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/Y | 0.5124 | ambiguous | 0.5144 | ambiguous | -1.088 | Destabilizing | 1.0 | D | 0.778 | 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.