Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31045 | 93358;93359;93360 | chr2:178548493;178548492;178548491 | chr2:179413220;179413219;179413218 |
| N2AB | 29404 | 88435;88436;88437 | chr2:178548493;178548492;178548491 | chr2:179413220;179413219;179413218 |
| N2A | 28477 | 85654;85655;85656 | chr2:178548493;178548492;178548491 | chr2:179413220;179413219;179413218 |
| N2B | 21980 | 66163;66164;66165 | chr2:178548493;178548492;178548491 | chr2:179413220;179413219;179413218 |
| Novex-1 | 22105 | 66538;66539;66540 | chr2:178548493;178548492;178548491 | chr2:179413220;179413219;179413218 |
| Novex-2 | 22172 | 66739;66740;66741 | chr2:178548493;178548492;178548491 | chr2:179413220;179413219;179413218 |
| 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 | None | None | 1.0 | N | 0.712 | 0.538 | 0.39709148275 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 0 | 1.65645E-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 | 0.787 | likely_pathogenic | 0.7309 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.62 | neutral | N | 0.51191307 | None | None | I |
| G/C | 0.8532 | likely_pathogenic | 0.8084 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.530159137 | None | None | I |
| G/D | 0.9753 | likely_pathogenic | 0.9628 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.521080556 | None | None | I |
| G/E | 0.978 | likely_pathogenic | 0.967 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/F | 0.9826 | likely_pathogenic | 0.977 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/H | 0.9819 | likely_pathogenic | 0.9745 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/I | 0.9773 | likely_pathogenic | 0.966 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9882 | likely_pathogenic | 0.9823 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/L | 0.9714 | likely_pathogenic | 0.9651 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/M | 0.9748 | likely_pathogenic | 0.9678 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.9413 | likely_pathogenic | 0.9219 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/Q | 0.9694 | likely_pathogenic | 0.9598 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/R | 0.9679 | likely_pathogenic | 0.9548 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.514256928 | None | None | I |
| G/S | 0.6243 | likely_pathogenic | 0.5534 | ambiguous | -0.425 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.516241483 | None | None | I |
| G/T | 0.9187 | likely_pathogenic | 0.8869 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/V | 0.9565 | likely_pathogenic | 0.9374 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.563378679 | None | None | I |
| G/W | 0.9823 | likely_pathogenic | 0.9761 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/Y | 0.9778 | likely_pathogenic | 0.9714 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.775 | 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.