Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31836 | 95731;95732;95733 | chr2:178545604;178545603;178545602 | chr2:179410331;179410330;179410329 |
| N2AB | 30195 | 90808;90809;90810 | chr2:178545604;178545603;178545602 | chr2:179410331;179410330;179410329 |
| N2A | 29268 | 88027;88028;88029 | chr2:178545604;178545603;178545602 | chr2:179410331;179410330;179410329 |
| N2B | 22771 | 68536;68537;68538 | chr2:178545604;178545603;178545602 | chr2:179410331;179410330;179410329 |
| Novex-1 | 22896 | 68911;68912;68913 | chr2:178545604;178545603;178545602 | chr2:179410331;179410330;179410329 |
| Novex-2 | 22963 | 69112;69113;69114 | chr2:178545604;178545603;178545602 | chr2:179410331;179410330;179410329 |
| 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 | None | None | 1.0 | D | 0.709 | 0.652 | 0.451599300725 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7798 | likely_pathogenic | 0.7934 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.63 | neutral | N | 0.515040168 | None | None | I |
| G/C | 0.7999 | likely_pathogenic | 0.8012 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.540198769 | None | None | I |
| G/D | 0.8325 | likely_pathogenic | 0.8331 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.53079102 | None | None | I |
| G/E | 0.8614 | likely_pathogenic | 0.871 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/F | 0.968 | likely_pathogenic | 0.9726 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/H | 0.9274 | likely_pathogenic | 0.9244 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/I | 0.9615 | likely_pathogenic | 0.9746 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9058 | likely_pathogenic | 0.9048 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/L | 0.9419 | likely_pathogenic | 0.9516 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/M | 0.9498 | likely_pathogenic | 0.9583 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/N | 0.7838 | likely_pathogenic | 0.7895 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/P | 0.9952 | likely_pathogenic | 0.997 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/Q | 0.84 | likely_pathogenic | 0.8389 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/R | 0.8379 | likely_pathogenic | 0.8371 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.525448649 | None | None | I |
| G/S | 0.5171 | ambiguous | 0.5374 | ambiguous | -0.369 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.49303512 | None | None | I |
| G/T | 0.8818 | likely_pathogenic | 0.9099 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/V | 0.9414 | likely_pathogenic | 0.9583 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.557289066 | None | None | I |
| G/W | 0.9316 | likely_pathogenic | 0.9445 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/Y | 0.9385 | likely_pathogenic | 0.9422 | pathogenic | -0.766 | 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.