Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16231 | 48916;48917;48918 | chr2:178614916;178614915;178614914 | chr2:179479643;179479642;179479641 |
| N2AB | 14590 | 43993;43994;43995 | chr2:178614916;178614915;178614914 | chr2:179479643;179479642;179479641 |
| N2A | 13663 | 41212;41213;41214 | chr2:178614916;178614915;178614914 | chr2:179479643;179479642;179479641 |
| N2B | 7166 | 21721;21722;21723 | chr2:178614916;178614915;178614914 | chr2:179479643;179479642;179479641 |
| Novex-1 | 7291 | 22096;22097;22098 | chr2:178614916;178614915;178614914 | chr2:179479643;179479642;179479641 |
| Novex-2 | 7358 | 22297;22298;22299 | chr2:178614916;178614915;178614914 | chr2:179479643;179479642;179479641 |
| 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/D | None | None | 1.0 | D | 0.865 | 0.795 | 0.841028351266 | gnomAD-4.0.0 | 6.94953E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.09493E-07 | 0 | 0 |
| A/T | rs1423024320  |
-2.009 | 1.0 | D | 0.78 | 0.716 | 0.676191613372 | gnomAD-4.0.0 | 1.38955E-06 | None | None | None | None | N | None | 0 | 2.40917E-05 | None | 0 | 0 | None | 0 | 0 | 9.09322E-07 | 0 | 0 |
| A/V | None | None | 1.0 | D | 0.695 | 0.766 | 0.72613263291 | gnomAD-4.0.0 | 6.94953E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20566E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9168 | likely_pathogenic | 0.8866 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/D | 0.9979 | likely_pathogenic | 0.9963 | pathogenic | -3.026 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.867305054 | None | None | N |
| A/E | 0.9972 | likely_pathogenic | 0.9953 | pathogenic | -2.795 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/F | 0.994 | likely_pathogenic | 0.9911 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| A/G | 0.5894 | likely_pathogenic | 0.5436 | ambiguous | -2.473 | Highly Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.755250161 | None | None | N |
| A/H | 0.9983 | likely_pathogenic | 0.9971 | pathogenic | -2.275 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/I | 0.986 | likely_pathogenic | 0.9785 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/K | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/L | 0.9387 | likely_pathogenic | 0.9118 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/M | 0.9835 | likely_pathogenic | 0.971 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/N | 0.995 | likely_pathogenic | 0.9909 | pathogenic | -2.078 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/P | 0.9875 | likely_pathogenic | 0.9788 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.835266716 | None | None | N |
| A/Q | 0.9949 | likely_pathogenic | 0.9929 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/R | 0.9962 | likely_pathogenic | 0.9946 | pathogenic | -1.646 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/S | 0.5427 | ambiguous | 0.4503 | ambiguous | -2.456 | Highly Destabilizing | 1.0 | D | 0.597 | neutral | D | 0.719136629 | None | None | N |
| A/T | 0.908 | likely_pathogenic | 0.8054 | pathogenic | -2.117 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.78128273 | None | None | N |
| A/V | 0.9078 | likely_pathogenic | 0.8613 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.802760994 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/Y | 0.9968 | likely_pathogenic | 0.9951 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.908 | 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.