Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4005 | 12238;12239;12240 | chr2:178741220;178741219;178741218 | chr2:179605947;179605946;179605945 |
| N2AB | 3688 | 11287;11288;11289 | chr2:178741220;178741219;178741218 | chr2:179605947;179605946;179605945 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3642 | 11149;11150;11151 | chr2:178741220;178741219;178741218 | chr2:179605947;179605946;179605945 |
| Novex-1 | 3767 | 11524;11525;11526 | chr2:178741220;178741219;178741218 | chr2:179605947;179605946;179605945 |
| Novex-2 | 3834 | 11725;11726;11727 | chr2:178741220;178741219;178741218 | chr2:179605947;179605946;179605945 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | None | None | 1.0 | D | 0.852 | 0.802 | None | gnomAD-4.0.0 | 1.59219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85793E-06 | 0 | 0 |
| D/G | rs1432768583  |
0.257 | 1.0 | D | 0.773 | 0.787 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1432768583 |
0.257 | 1.0 | D | 0.773 | 0.787 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1432768583 |
0.257 | 1.0 | D | 0.773 | 0.787 | None | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | N | None | 2.41196E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.707 | likely_pathogenic | 0.7499 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.852 | deleterious | D | 0.823862034 | None | None | N |
| D/C | 0.929 | likely_pathogenic | 0.9434 | pathogenic | -0.011 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| D/E | 0.7281 | likely_pathogenic | 0.7494 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.59 | neutral | D | 0.756232114 | None | None | N |
| D/F | 0.9164 | likely_pathogenic | 0.9292 | pathogenic | 0.691 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/G | 0.6969 | likely_pathogenic | 0.7409 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.82306577 | None | None | N |
| D/H | 0.7279 | likely_pathogenic | 0.729 | pathogenic | 0.238 | Stabilizing | 1.0 | D | 0.829 | deleterious | D | 0.711769251 | None | None | N |
| D/I | 0.8812 | likely_pathogenic | 0.9205 | pathogenic | 1.222 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/K | 0.9181 | likely_pathogenic | 0.9356 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/L | 0.9139 | likely_pathogenic | 0.9255 | pathogenic | 1.222 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/M | 0.9538 | likely_pathogenic | 0.9594 | pathogenic | 1.623 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/N | 0.3144 | likely_benign | 0.3573 | ambiguous | -0.974 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.708376316 | None | None | N |
| D/P | 0.9875 | likely_pathogenic | 0.9906 | pathogenic | 0.855 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/Q | 0.9054 | likely_pathogenic | 0.9134 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| D/R | 0.9409 | likely_pathogenic | 0.9555 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/S | 0.6189 | likely_pathogenic | 0.6537 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/T | 0.8384 | likely_pathogenic | 0.8754 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/V | 0.747 | likely_pathogenic | 0.8152 | pathogenic | 0.855 | Stabilizing | 1.0 | D | 0.858 | deleterious | D | 0.789406642 | None | None | N |
| D/W | 0.9853 | likely_pathogenic | 0.9874 | pathogenic | 0.768 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/Y | 0.5886 | likely_pathogenic | 0.6502 | pathogenic | 0.919 | Stabilizing | 1.0 | D | 0.863 | deleterious | D | 0.823129246 | 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.