Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1152 | 3679;3680;3681 | chr2:178781190;178781189;178781188 | chr2:179645917;179645916;179645915 |
| N2AB | 1152 | 3679;3680;3681 | chr2:178781190;178781189;178781188 | chr2:179645917;179645916;179645915 |
| N2A | 1152 | 3679;3680;3681 | chr2:178781190;178781189;178781188 | chr2:179645917;179645916;179645915 |
| N2B | 1106 | 3541;3542;3543 | chr2:178781190;178781189;178781188 | chr2:179645917;179645916;179645915 |
| Novex-1 | 1106 | 3541;3542;3543 | chr2:178781190;178781189;178781188 | chr2:179645917;179645916;179645915 |
| Novex-2 | 1106 | 3541;3542;3543 | chr2:178781190;178781189;178781188 | chr2:179645917;179645916;179645915 |
| Novex-3 | 1152 | 3679;3680;3681 | chr2:178781190;178781189;178781188 | chr2:179645917;179645916;179645915 |
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 | rs1258678741  |
-0.389 | 1.0 | D | 0.807 | 0.805 | 0.77693296419 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs1258678741 |
-0.389 | 1.0 | D | 0.807 | 0.805 | 0.77693296419 | gnomAD-4.0.0 | 1.5908E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-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 | 0.6544 | likely_pathogenic | 0.6202 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.549725057 | None | None | I |
| G/C | 0.9519 | likely_pathogenic | 0.9533 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| G/D | 0.9559 | likely_pathogenic | 0.9588 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/E | 0.957 | likely_pathogenic | 0.9642 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.770216621 | None | None | I |
| G/F | 0.9946 | likely_pathogenic | 0.9953 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/H | 0.9942 | likely_pathogenic | 0.9952 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| G/I | 0.9935 | likely_pathogenic | 0.9943 | pathogenic | -0.068 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/K | 0.9899 | likely_pathogenic | 0.9918 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/L | 0.9873 | likely_pathogenic | 0.9884 | pathogenic | -0.068 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/M | 0.991 | likely_pathogenic | 0.9916 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| G/N | 0.9753 | likely_pathogenic | 0.9765 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Q | 0.9693 | likely_pathogenic | 0.9748 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/R | 0.9701 | likely_pathogenic | 0.9761 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.77015717 | None | None | I |
| G/S | 0.6292 | likely_pathogenic | 0.6186 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/T | 0.9446 | likely_pathogenic | 0.9484 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/V | 0.9762 | likely_pathogenic | 0.9792 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.770216621 | None | None | I |
| G/W | 0.993 | likely_pathogenic | 0.9943 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/Y | 0.9953 | likely_pathogenic | 0.9961 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | 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.