Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22649 | 68170;68171;68172 | chr2:178579085;178579084;178579083 | chr2:179443812;179443811;179443810 |
| N2AB | 21008 | 63247;63248;63249 | chr2:178579085;178579084;178579083 | chr2:179443812;179443811;179443810 |
| N2A | 20081 | 60466;60467;60468 | chr2:178579085;178579084;178579083 | chr2:179443812;179443811;179443810 |
| N2B | 13584 | 40975;40976;40977 | chr2:178579085;178579084;178579083 | chr2:179443812;179443811;179443810 |
| Novex-1 | 13709 | 41350;41351;41352 | chr2:178579085;178579084;178579083 | chr2:179443812;179443811;179443810 |
| Novex-2 | 13776 | 41551;41552;41553 | chr2:178579085;178579084;178579083 | chr2:179443812;179443811;179443810 |
| 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/R | rs774620164  |
-0.345 | 1.0 | N | 0.801 | 0.444 | 0.490908442424 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs774620164 |
-0.345 | 1.0 | N | 0.801 | 0.444 | 0.490908442424 | gnomAD-4.0.0 | 1.5922E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78133E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3541 | ambiguous | 0.3391 | benign | -0.331 | Destabilizing | 0.974 | D | 0.475 | neutral | N | 0.45797352 | None | None | N |
| G/C | 0.7133 | likely_pathogenic | 0.701 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/D | 0.8681 | likely_pathogenic | 0.8753 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/E | 0.8428 | likely_pathogenic | 0.8283 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.457947067 | None | None | N |
| G/F | 0.9277 | likely_pathogenic | 0.9138 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/H | 0.937 | likely_pathogenic | 0.936 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/I | 0.861 | likely_pathogenic | 0.8532 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/K | 0.9316 | likely_pathogenic | 0.9256 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/L | 0.8618 | likely_pathogenic | 0.8532 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/M | 0.9232 | likely_pathogenic | 0.9127 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/N | 0.8659 | likely_pathogenic | 0.8757 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/P | 0.8197 | likely_pathogenic | 0.8223 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Q | 0.8975 | likely_pathogenic | 0.8903 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/R | 0.8783 | likely_pathogenic | 0.876 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.474102765 | None | None | N |
| G/S | 0.3773 | ambiguous | 0.3774 | ambiguous | -0.78 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/T | 0.717 | likely_pathogenic | 0.7155 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/V | 0.7775 | likely_pathogenic | 0.7684 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.493981447 | None | None | N |
| G/W | 0.9045 | likely_pathogenic | 0.8942 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/Y | 0.8967 | likely_pathogenic | 0.882 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.765 | 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.