Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30519 | 91780;91781;91782 | chr2:178550976;178550975;178550974 | chr2:179415703;179415702;179415701 |
| N2AB | 28878 | 86857;86858;86859 | chr2:178550976;178550975;178550974 | chr2:179415703;179415702;179415701 |
| N2A | 27951 | 84076;84077;84078 | chr2:178550976;178550975;178550974 | chr2:179415703;179415702;179415701 |
| N2B | 21454 | 64585;64586;64587 | chr2:178550976;178550975;178550974 | chr2:179415703;179415702;179415701 |
| Novex-1 | 21579 | 64960;64961;64962 | chr2:178550976;178550975;178550974 | chr2:179415703;179415702;179415701 |
| Novex-2 | 21646 | 65161;65162;65163 | chr2:178550976;178550975;178550974 | chr2:179415703;179415702;179415701 |
| 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 | rs202185465  |
0.076 | 0.999 | N | 0.505 | 0.16 | 0.239305524855 | gnomAD-2.1.1 | 7.19E-06 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs202185465 |
0.076 | 0.999 | N | 0.505 | 0.16 | 0.239305524855 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs202185465 |
0.076 | 0.999 | N | 0.505 | 0.16 | 0.239305524855 | gnomAD-4.0.0 | 2.62919E-05 | None | None | None | None | N | None | 9.65158E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | None | None | 1.0 | N | 0.823 | 0.418 | 0.759054169798 | gnomAD-4.0.0 | 6.8475E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65772E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7247 | likely_pathogenic | 0.7549 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.737 | deleterious | N | 0.512006694 | None | None | N |
| D/C | 0.9761 | likely_pathogenic | 0.977 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/E | 0.6096 | likely_pathogenic | 0.6351 | pathogenic | -0.282 | Destabilizing | 0.999 | D | 0.505 | neutral | N | 0.489129835 | None | None | N |
| D/F | 0.968 | likely_pathogenic | 0.9769 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/G | 0.7348 | likely_pathogenic | 0.7881 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.497819103 | None | None | N |
| D/H | 0.9131 | likely_pathogenic | 0.9275 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.894 | deleterious | N | 0.489678801 | None | None | N |
| D/I | 0.9351 | likely_pathogenic | 0.9482 | pathogenic | 0.25 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/K | 0.9546 | likely_pathogenic | 0.962 | pathogenic | 0.363 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/L | 0.904 | likely_pathogenic | 0.9259 | pathogenic | 0.25 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| D/M | 0.9659 | likely_pathogenic | 0.975 | pathogenic | 0.269 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/N | 0.4421 | ambiguous | 0.5174 | ambiguous | 0.174 | Stabilizing | 1.0 | D | 0.789 | deleterious | N | 0.515316358 | None | None | N |
| D/P | 0.9501 | likely_pathogenic | 0.9566 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/Q | 0.9139 | likely_pathogenic | 0.9301 | pathogenic | 0.177 | Stabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| D/R | 0.955 | likely_pathogenic | 0.9648 | pathogenic | 0.52 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/S | 0.5917 | likely_pathogenic | 0.6452 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/T | 0.8421 | likely_pathogenic | 0.8706 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/V | 0.8298 | likely_pathogenic | 0.862 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.783 | deleterious | N | 0.489425312 | None | None | N |
| D/W | 0.9925 | likely_pathogenic | 0.9939 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/Y | 0.8368 | likely_pathogenic | 0.8608 | pathogenic | 0.049 | Stabilizing | 1.0 | D | 0.823 | deleterious | N | 0.516430337 | 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.