Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19095 | 57508;57509;57510 | chr2:178597799;178597798;178597797 | chr2:179462526;179462525;179462524 |
| N2AB | 17454 | 52585;52586;52587 | chr2:178597799;178597798;178597797 | chr2:179462526;179462525;179462524 |
| N2A | 16527 | 49804;49805;49806 | chr2:178597799;178597798;178597797 | chr2:179462526;179462525;179462524 |
| N2B | 10030 | 30313;30314;30315 | chr2:178597799;178597798;178597797 | chr2:179462526;179462525;179462524 |
| Novex-1 | 10155 | 30688;30689;30690 | chr2:178597799;178597798;178597797 | chr2:179462526;179462525;179462524 |
| Novex-2 | 10222 | 30889;30890;30891 | chr2:178597799;178597798;178597797 | chr2:179462526;179462525;179462524 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | N | 0.501 | 0.315 | 0.431035450679 | gnomAD-4.0.0 | 6.84479E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9964E-07 | 0 | 0 |
| D/V | None | None | 1.0 | N | 0.763 | 0.615 | 0.713510005162 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9786 | likely_pathogenic | 0.9791 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.506074763 | None | None | N |
| D/C | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/E | 0.9737 | likely_pathogenic | 0.9668 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.501 | neutral | N | 0.503539868 | None | None | N |
| D/F | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| D/G | 0.9812 | likely_pathogenic | 0.9828 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.507088721 | None | None | N |
| D/H | 0.9888 | likely_pathogenic | 0.9874 | pathogenic | 0.372 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.5075957 | None | None | N |
| D/I | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | 0.276 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/K | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | 0.329 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/L | 0.9922 | likely_pathogenic | 0.9907 | pathogenic | 0.276 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/M | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | 0.242 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/N | 0.9629 | likely_pathogenic | 0.9629 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.642 | neutral | N | 0.505567784 | None | None | N |
| D/P | 0.9928 | likely_pathogenic | 0.9929 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/Q | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| D/R | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | 0.621 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/S | 0.97 | likely_pathogenic | 0.9688 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| D/T | 0.9946 | likely_pathogenic | 0.9939 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/V | 0.9922 | likely_pathogenic | 0.9913 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.763 | deleterious | N | 0.50734221 | None | None | N |
| D/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/Y | 0.987 | likely_pathogenic | 0.9855 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.755 | deleterious | N | 0.507849189 | 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.