Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17646 | 53161;53162;53163 | chr2:178607851;178607850;178607849 | chr2:179472578;179472577;179472576 |
| N2AB | 16005 | 48238;48239;48240 | chr2:178607851;178607850;178607849 | chr2:179472578;179472577;179472576 |
| N2A | 15078 | 45457;45458;45459 | chr2:178607851;178607850;178607849 | chr2:179472578;179472577;179472576 |
| N2B | 8581 | 25966;25967;25968 | chr2:178607851;178607850;178607849 | chr2:179472578;179472577;179472576 |
| Novex-1 | 8706 | 26341;26342;26343 | chr2:178607851;178607850;178607849 | chr2:179472578;179472577;179472576 |
| Novex-2 | 8773 | 26542;26543;26544 | chr2:178607851;178607850;178607849 | chr2:179472578;179472577;179472576 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs551439510  |
-0.68 | 1.0 | D | 0.699 | 0.605 | 0.723718158193 | 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 |
| A/V | rs551439510 |
-0.68 | 1.0 | D | 0.699 | 0.605 | 0.723718158193 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs551439510 |
-0.68 | 1.0 | D | 0.699 | 0.605 | 0.723718158193 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/V | rs551439510 |
-0.68 | 1.0 | D | 0.699 | 0.605 | 0.723718158193 | gnomAD-4.0.0 | 6.57393E-06 | None | None | None | None | N | None | 2.40628E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8917 | likely_pathogenic | 0.8734 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/D | 0.9975 | likely_pathogenic | 0.9969 | pathogenic | -2.993 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.552375812 | None | None | N |
| A/E | 0.9966 | likely_pathogenic | 0.9964 | pathogenic | -2.786 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/F | 0.9916 | likely_pathogenic | 0.9892 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | None | None | N |
| A/G | 0.5018 | ambiguous | 0.4682 | ambiguous | -2.016 | Highly Destabilizing | 1.0 | D | 0.619 | neutral | D | 0.523849849 | None | None | N |
| A/H | 0.9973 | likely_pathogenic | 0.9964 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| A/I | 0.9841 | likely_pathogenic | 0.9806 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/K | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/L | 0.9487 | likely_pathogenic | 0.9457 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/M | 0.9793 | likely_pathogenic | 0.9739 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/N | 0.9946 | likely_pathogenic | 0.9934 | pathogenic | -1.887 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| A/P | 0.9701 | likely_pathogenic | 0.9659 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.533422183 | None | None | N |
| A/Q | 0.9934 | likely_pathogenic | 0.9929 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/R | 0.9946 | likely_pathogenic | 0.9941 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/S | 0.4107 | ambiguous | 0.3698 | ambiguous | -2.232 | Highly Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.517658104 | None | None | N |
| A/T | 0.8667 | likely_pathogenic | 0.8385 | pathogenic | -1.917 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.532661714 | None | None | N |
| A/V | 0.9049 | likely_pathogenic | 0.8823 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.550347895 | None | None | N |
| A/W | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/Y | 0.9969 | likely_pathogenic | 0.9958 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.937 | 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.