Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15893 | 47902;47903;47904 | chr2:178617408;178617407;178617406 | chr2:179482135;179482134;179482133 |
| N2AB | 14252 | 42979;42980;42981 | chr2:178617408;178617407;178617406 | chr2:179482135;179482134;179482133 |
| N2A | 13325 | 40198;40199;40200 | chr2:178617408;178617407;178617406 | chr2:179482135;179482134;179482133 |
| N2B | 6828 | 20707;20708;20709 | chr2:178617408;178617407;178617406 | chr2:179482135;179482134;179482133 |
| Novex-1 | 6953 | 21082;21083;21084 | chr2:178617408;178617407;178617406 | chr2:179482135;179482134;179482133 |
| Novex-2 | 7020 | 21283;21284;21285 | chr2:178617408;178617407;178617406 | chr2:179482135;179482134;179482133 |
| 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/A | rs1224613366  |
-0.052 | 1.0 | D | 0.596 | 0.485 | 0.421799068777 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9516E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs1224613366 |
-0.052 | 1.0 | D | 0.596 | 0.485 | 0.421799068777 | gnomAD-4.0.0 | 6.58788E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9516E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1224613366 |
-1.856 | 1.0 | D | 0.854 | 0.509 | 0.479133204078 | gnomAD-2.1.1 | 4.49E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.94E-05 | None | 0 | 0 | 0 |
| G/D | rs1224613366 |
-1.856 | 1.0 | D | 0.854 | 0.509 | 0.479133204078 | gnomAD-4.0.0 | 3.29109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.0869E-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 | 0.6469 | likely_pathogenic | 0.7447 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.596 | neutral | D | 0.597854354 | None | None | N |
| G/C | 0.8632 | likely_pathogenic | 0.9185 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.677074332 | None | None | N |
| G/D | 0.9614 | likely_pathogenic | 0.9752 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.616788534 | None | None | N |
| G/E | 0.9719 | likely_pathogenic | 0.9843 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| G/F | 0.9896 | likely_pathogenic | 0.994 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/H | 0.981 | likely_pathogenic | 0.9896 | pathogenic | -1.585 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/I | 0.9903 | likely_pathogenic | 0.9948 | pathogenic | 0.438 | Stabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/K | 0.9887 | likely_pathogenic | 0.9932 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| G/L | 0.9858 | likely_pathogenic | 0.9918 | pathogenic | 0.438 | Stabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| G/M | 0.992 | likely_pathogenic | 0.996 | pathogenic | 0.265 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/N | 0.9607 | likely_pathogenic | 0.978 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/P | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | 0.177 | Stabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| G/Q | 0.9754 | likely_pathogenic | 0.9862 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| G/R | 0.9663 | likely_pathogenic | 0.9781 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.599960317 | None | None | N |
| G/S | 0.6802 | likely_pathogenic | 0.7783 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | D | 0.540672508 | None | None | N |
| G/T | 0.947 | likely_pathogenic | 0.9708 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| G/V | 0.9719 | likely_pathogenic | 0.9843 | pathogenic | 0.177 | Stabilizing | 1.0 | D | 0.919 | deleterious | D | 0.686772364 | None | None | N |
| G/W | 0.9741 | likely_pathogenic | 0.982 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Y | 0.9715 | likely_pathogenic | 0.9819 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.871 | 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.