Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23042 | 69349;69350;69351 | chr2:178577211;178577210;178577209 | chr2:179441938;179441937;179441936 |
| N2AB | 21401 | 64426;64427;64428 | chr2:178577211;178577210;178577209 | chr2:179441938;179441937;179441936 |
| N2A | 20474 | 61645;61646;61647 | chr2:178577211;178577210;178577209 | chr2:179441938;179441937;179441936 |
| N2B | 13977 | 42154;42155;42156 | chr2:178577211;178577210;178577209 | chr2:179441938;179441937;179441936 |
| Novex-1 | 14102 | 42529;42530;42531 | chr2:178577211;178577210;178577209 | chr2:179441938;179441937;179441936 |
| Novex-2 | 14169 | 42730;42731;42732 | chr2:178577211;178577210;178577209 | chr2:179441938;179441937;179441936 |
| 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/D | rs531136835  |
-2.242 | 1.0 | N | 0.852 | 0.445 | 0.318540980066 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs531136835 |
-2.242 | 1.0 | N | 0.852 | 0.445 | 0.318540980066 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.08333E-04 | 0 |
| G/D | rs531136835 |
-2.242 | 1.0 | N | 0.852 | 0.445 | 0.318540980066 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/D | rs531136835 |
-2.242 | 1.0 | N | 0.852 | 0.445 | 0.318540980066 | gnomAD-4.0.0 | 6.58432E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.08507E-04 | 0 |
| G/S | None | None | 1.0 | N | 0.766 | 0.472 | 0.289098819767 | gnomAD-4.0.0 | 1.59283E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86031E-06 | 0 | 0 |
| G/V | rs531136835 |
None | 1.0 | N | 0.876 | 0.419 | 0.571414409706 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs531136835 |
None | 1.0 | N | 0.876 | 0.419 | 0.571414409706 | gnomAD-4.0.0 | 3.04609E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61515E-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 | 0.4953 | ambiguous | 0.4691 | ambiguous | -0.882 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.503423011 | None | None | N |
| G/C | 0.8232 | likely_pathogenic | 0.8144 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.531948973 | None | None | N |
| G/D | 0.8752 | likely_pathogenic | 0.9082 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.469060926 | None | None | N |
| G/E | 0.9137 | likely_pathogenic | 0.9238 | pathogenic | -2.062 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/F | 0.9681 | likely_pathogenic | 0.9728 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/H | 0.9665 | likely_pathogenic | 0.9699 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/I | 0.9553 | likely_pathogenic | 0.9591 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/K | 0.9716 | likely_pathogenic | 0.9733 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/L | 0.9077 | likely_pathogenic | 0.9139 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/M | 0.9522 | likely_pathogenic | 0.9541 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/N | 0.9169 | likely_pathogenic | 0.9209 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/P | 0.9929 | likely_pathogenic | 0.9939 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Q | 0.9348 | likely_pathogenic | 0.9405 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/R | 0.9474 | likely_pathogenic | 0.9513 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.51283076 | None | None | N |
| G/S | 0.3716 | ambiguous | 0.3493 | ambiguous | -1.354 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.474399616 | None | None | N |
| G/T | 0.8259 | likely_pathogenic | 0.8166 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/V | 0.9203 | likely_pathogenic | 0.9198 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.519921105 | None | None | N |
| G/W | 0.9648 | likely_pathogenic | 0.9687 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/Y | 0.9624 | likely_pathogenic | 0.9658 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.855 | 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.