Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28122 | 84589;84590;84591 | chr2:178561768;178561767;178561766 | chr2:179426495;179426494;179426493 |
| N2AB | 26481 | 79666;79667;79668 | chr2:178561768;178561767;178561766 | chr2:179426495;179426494;179426493 |
| N2A | 25554 | 76885;76886;76887 | chr2:178561768;178561767;178561766 | chr2:179426495;179426494;179426493 |
| N2B | 19057 | 57394;57395;57396 | chr2:178561768;178561767;178561766 | chr2:179426495;179426494;179426493 |
| Novex-1 | 19182 | 57769;57770;57771 | chr2:178561768;178561767;178561766 | chr2:179426495;179426494;179426493 |
| Novex-2 | 19249 | 57970;57971;57972 | chr2:178561768;178561767;178561766 | chr2:179426495;179426494;179426493 |
| 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/R | rs371768793  |
-0.44 | 1.0 | D | 0.865 | 0.635 | 0.77238569511 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs371768793 |
-0.44 | 1.0 | D | 0.865 | 0.635 | 0.77238569511 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs371768793 |
-0.44 | 1.0 | D | 0.865 | 0.635 | 0.77238569511 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/V | rs1340329525 |
-0.493 | 1.0 | D | 0.851 | 0.534 | 0.739879714019 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1340329525 |
-0.493 | 1.0 | D | 0.851 | 0.534 | 0.739879714019 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1340329525 |
-0.493 | 1.0 | D | 0.851 | 0.534 | 0.739879714019 | gnomAD-4.0.0 | 6.5716E-06 | None | None | None | None | I | None | 0 | 6.54965E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4044 | ambiguous | 0.3855 | ambiguous | -0.393 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.493496554 | None | None | I |
| G/C | 0.5075 | ambiguous | 0.4722 | ambiguous | -0.883 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/D | 0.4454 | ambiguous | 0.3931 | ambiguous | -0.714 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/E | 0.5824 | likely_pathogenic | 0.5331 | ambiguous | -0.883 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.509954968 | None | None | I |
| G/F | 0.8618 | likely_pathogenic | 0.8418 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/H | 0.5843 | likely_pathogenic | 0.5206 | ambiguous | -0.648 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/I | 0.8917 | likely_pathogenic | 0.8708 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/K | 0.6081 | likely_pathogenic | 0.5427 | ambiguous | -0.857 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/L | 0.8332 | likely_pathogenic | 0.809 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/M | 0.8584 | likely_pathogenic | 0.8294 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/N | 0.4362 | ambiguous | 0.3793 | ambiguous | -0.506 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/P | 0.9826 | likely_pathogenic | 0.9793 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/Q | 0.5553 | ambiguous | 0.5066 | ambiguous | -0.835 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/R | 0.4594 | ambiguous | 0.4098 | ambiguous | -0.384 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.540175997 | None | None | I |
| G/S | 0.2255 | likely_benign | 0.2195 | benign | -0.647 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/T | 0.5789 | likely_pathogenic | 0.5402 | ambiguous | -0.753 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/V | 0.7986 | likely_pathogenic | 0.7716 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.536163525 | None | None | I |
| G/W | 0.7539 | likely_pathogenic | 0.722 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/Y | 0.7631 | likely_pathogenic | 0.711 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.815 | deleterious | 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.