Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3845 | 11758;11759;11760 | chr2:178741700;178741699;178741698 | chr2:179606427;179606426;179606425 |
| N2AB | 3528 | 10807;10808;10809 | chr2:178741700;178741699;178741698 | chr2:179606427;179606426;179606425 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3482 | 10669;10670;10671 | chr2:178741700;178741699;178741698 | chr2:179606427;179606426;179606425 |
| Novex-1 | 3607 | 11044;11045;11046 | chr2:178741700;178741699;178741698 | chr2:179606427;179606426;179606425 |
| Novex-2 | 3674 | 11245;11246;11247 | chr2:178741700;178741699;178741698 | chr2:179606427;179606426;179606425 |
| 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 | None | None | 1.0 | D | 0.879 | 0.637 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.819 | 0.622 | None | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85845E-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 | 0.3675 | ambiguous | 0.4311 | ambiguous | -0.578 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.628056521 | None | None | I |
| G/C | 0.6739 | likely_pathogenic | 0.768 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.746711452 | None | None | I |
| G/D | 0.8418 | likely_pathogenic | 0.9205 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.747659284 | None | None | I |
| G/E | 0.8778 | likely_pathogenic | 0.9327 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/F | 0.9734 | likely_pathogenic | 0.9798 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/H | 0.9627 | likely_pathogenic | 0.9786 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| G/I | 0.917 | likely_pathogenic | 0.9379 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/K | 0.9641 | likely_pathogenic | 0.9787 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9458 | likely_pathogenic | 0.9627 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/M | 0.9682 | likely_pathogenic | 0.9765 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| G/N | 0.9163 | likely_pathogenic | 0.9458 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/P | 0.9875 | likely_pathogenic | 0.9929 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/Q | 0.9382 | likely_pathogenic | 0.9617 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.881 | likely_pathogenic | 0.9315 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.782615886 | None | None | I |
| G/S | 0.3531 | ambiguous | 0.4233 | ambiguous | -1.132 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.648143946 | None | None | I |
| G/T | 0.76 | likely_pathogenic | 0.8189 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/V | 0.824 | likely_pathogenic | 0.8659 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.761644625 | None | None | I |
| G/W | 0.9299 | likely_pathogenic | 0.9614 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/Y | 0.955 | likely_pathogenic | 0.971 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.802 | 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.