Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32931 | 99016;99017;99018 | chr2:178539144;178539143;178539142 | chr2:179403871;179403870;179403869 |
| N2AB | 31290 | 94093;94094;94095 | chr2:178539144;178539143;178539142 | chr2:179403871;179403870;179403869 |
| N2A | 30363 | 91312;91313;91314 | chr2:178539144;178539143;178539142 | chr2:179403871;179403870;179403869 |
| N2B | 23866 | 71821;71822;71823 | chr2:178539144;178539143;178539142 | chr2:179403871;179403870;179403869 |
| Novex-1 | 23991 | 72196;72197;72198 | chr2:178539144;178539143;178539142 | chr2:179403871;179403870;179403869 |
| Novex-2 | 24058 | 72397;72398;72399 | chr2:178539144;178539143;178539142 | chr2:179403871;179403870;179403869 |
| 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 | rs765688561  |
-1.09 | 1.0 | N | 0.671 | 0.445 | 0.432154444652 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | N | None | 0 | 2.54669E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs765688561 |
-1.09 | 1.0 | N | 0.671 | 0.445 | 0.432154444652 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs765688561 |
-1.09 | 1.0 | N | 0.671 | 0.445 | 0.432154444652 | gnomAD-4.0.0 | 8.67604E-06 | None | None | None | None | N | None | 0 | 1.83388E-04 | None | 0 | 0 | None | 0 | 0 | 2.54287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7691 | likely_pathogenic | 0.5007 | ambiguous | -0.775 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.486922734 | None | None | N |
| G/C | 0.9453 | likely_pathogenic | 0.7444 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.496103447 | None | None | N |
| G/D | 0.9903 | likely_pathogenic | 0.9633 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.500013786 | None | None | N |
| G/E | 0.9941 | likely_pathogenic | 0.9686 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/F | 0.9971 | likely_pathogenic | 0.9814 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/H | 0.9942 | likely_pathogenic | 0.9531 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/I | 0.9977 | likely_pathogenic | 0.986 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/K | 0.9979 | likely_pathogenic | 0.9883 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/L | 0.9969 | likely_pathogenic | 0.9818 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/M | 0.9978 | likely_pathogenic | 0.9805 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/N | 0.986 | likely_pathogenic | 0.9184 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/P | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/Q | 0.993 | likely_pathogenic | 0.9572 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/R | 0.991 | likely_pathogenic | 0.9617 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.484427519 | None | None | N |
| G/S | 0.7434 | likely_pathogenic | 0.3903 | ambiguous | -1.367 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.47132324 | None | None | N |
| G/T | 0.9807 | likely_pathogenic | 0.8608 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/V | 0.9926 | likely_pathogenic | 0.9605 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.526765322 | None | None | N |
| G/W | 0.9937 | likely_pathogenic | 0.9667 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Y | 0.9943 | likely_pathogenic | 0.9643 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.841 | 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.