Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7770 | 23533;23534;23535 | chr2:178720454;178720453;178720452 | chr2:179585181;179585180;179585179 |
| N2AB | 7453 | 22582;22583;22584 | chr2:178720454;178720453;178720452 | chr2:179585181;179585180;179585179 |
| N2A | 6526 | 19801;19802;19803 | chr2:178720454;178720453;178720452 | chr2:179585181;179585180;179585179 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs748511026  |
None | 0.999 | D | 0.797 | 0.651 | 0.451118754121 | 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 |
| G/A | rs748511026 |
None | 0.999 | D | 0.797 | 0.651 | 0.451118754121 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | N | None | 2.41313E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs748511026 |
-0.275 | 0.998 | D | 0.736 | 0.695 | 0.781948315609 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/E | rs748511026 |
-0.275 | 0.998 | D | 0.736 | 0.695 | 0.781948315609 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs748511026 |
-0.275 | 0.998 | D | 0.736 | 0.695 | 0.781948315609 | gnomAD-4.0.0 | 1.42544E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.94969E-05 | 0 | 0 |
| G/R | rs374739582 |
-0.316 | 1.0 | D | 0.833 | 0.717 | 0.857860729437 | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.02459E-04 | None | 0 | None | 4E-05 | 7.03E-05 | 1.40568E-04 |
| G/R | rs374739582 |
-0.316 | 1.0 | D | 0.833 | 0.717 | 0.857860729437 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| G/R | rs374739582 |
-0.316 | 1.0 | D | 0.833 | 0.717 | 0.857860729437 | gnomAD-4.0.0 | 5.94971E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.45613E-05 | None | 1.56226E-05 | 1.64528E-04 | 7.45971E-05 | 3.29453E-05 | 1.60128E-05 |
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 | 0.5133 | ambiguous | 0.5501 | ambiguous | -0.562 | Destabilizing | 0.999 | D | 0.797 | deleterious | D | 0.587238623 | None | None | N |
| G/C | 0.9097 | likely_pathogenic | 0.91 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/D | 0.9166 | likely_pathogenic | 0.9074 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/E | 0.9595 | likely_pathogenic | 0.9584 | pathogenic | -0.718 | Destabilizing | 0.998 | D | 0.736 | prob.delet. | D | 0.662963583 | None | None | N |
| G/F | 0.9886 | likely_pathogenic | 0.9885 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/H | 0.9884 | likely_pathogenic | 0.9872 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/I | 0.9881 | likely_pathogenic | 0.9891 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/K | 0.989 | likely_pathogenic | 0.9889 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/L | 0.9762 | likely_pathogenic | 0.9761 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/M | 0.9848 | likely_pathogenic | 0.9844 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/N | 0.9566 | likely_pathogenic | 0.9441 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/P | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/Q | 0.9662 | likely_pathogenic | 0.9636 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/R | 0.9655 | likely_pathogenic | 0.9656 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.662761779 | None | None | N |
| G/S | 0.5209 | ambiguous | 0.5071 | ambiguous | -1.022 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/T | 0.9207 | likely_pathogenic | 0.9195 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/V | 0.9635 | likely_pathogenic | 0.9673 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.662963583 | None | None | N |
| G/W | 0.98 | likely_pathogenic | 0.9802 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.663165387 | None | None | N |
| G/Y | 0.9885 | likely_pathogenic | 0.9881 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.813 | 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.