Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30998 | 93217;93218;93219 | chr2:178548634;178548633;178548632 | chr2:179413361;179413360;179413359 |
| N2AB | 29357 | 88294;88295;88296 | chr2:178548634;178548633;178548632 | chr2:179413361;179413360;179413359 |
| N2A | 28430 | 85513;85514;85515 | chr2:178548634;178548633;178548632 | chr2:179413361;179413360;179413359 |
| N2B | 21933 | 66022;66023;66024 | chr2:178548634;178548633;178548632 | chr2:179413361;179413360;179413359 |
| Novex-1 | 22058 | 66397;66398;66399 | chr2:178548634;178548633;178548632 | chr2:179413361;179413360;179413359 |
| Novex-2 | 22125 | 66598;66599;66600 | chr2:178548634;178548633;178548632 | chr2:179413361;179413360;179413359 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs766129755  |
-1.059 | 0.782 | D | 0.739 | 0.32 | 0.473695954338 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.3071E-04 | None | 0 | 0 | 0 |
| V/M | rs766129755 |
-1.059 | 0.782 | D | 0.739 | 0.32 | 0.473695954338 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| V/M | rs766129755 |
-1.059 | 0.782 | D | 0.739 | 0.32 | 0.473695954338 | gnomAD-4.0.0 | 4.33773E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.68521E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3725 | ambiguous | 0.38 | ambiguous | -1.776 | Destabilizing | 0.296 | N | 0.659 | neutral | N | 0.394309945 | None | None | N |
| V/C | 0.9099 | likely_pathogenic | 0.9094 | pathogenic | -1.623 | Destabilizing | 0.991 | D | 0.748 | deleterious | None | None | None | None | N |
| V/D | 0.9949 | likely_pathogenic | 0.9948 | pathogenic | -1.801 | Destabilizing | 0.967 | D | 0.816 | deleterious | None | None | None | None | N |
| V/E | 0.9838 | likely_pathogenic | 0.9836 | pathogenic | -1.722 | Destabilizing | 0.879 | D | 0.775 | deleterious | N | 0.512860209 | None | None | N |
| V/F | 0.7388 | likely_pathogenic | 0.7489 | pathogenic | -1.298 | Destabilizing | 0.704 | D | 0.778 | deleterious | None | None | None | None | N |
| V/G | 0.796 | likely_pathogenic | 0.7955 | pathogenic | -2.184 | Highly Destabilizing | 0.879 | D | 0.797 | deleterious | N | 0.502531567 | None | None | N |
| V/H | 0.9961 | likely_pathogenic | 0.9959 | pathogenic | -1.754 | Destabilizing | 0.991 | D | 0.812 | deleterious | None | None | None | None | N |
| V/I | 0.0911 | likely_benign | 0.0914 | benign | -0.716 | Destabilizing | 0.218 | N | 0.582 | neutral | None | None | None | None | N |
| V/K | 0.9897 | likely_pathogenic | 0.9903 | pathogenic | -1.389 | Destabilizing | 0.906 | D | 0.769 | deleterious | None | None | None | None | N |
| V/L | 0.2403 | likely_benign | 0.2283 | benign | -0.716 | Destabilizing | None | N | 0.383 | neutral | N | 0.425436221 | None | None | N |
| V/M | 0.3219 | likely_benign | 0.3165 | benign | -0.776 | Destabilizing | 0.782 | D | 0.739 | prob.delet. | D | 0.533777194 | None | None | N |
| V/N | 0.9828 | likely_pathogenic | 0.9817 | pathogenic | -1.378 | Destabilizing | 0.967 | D | 0.813 | deleterious | None | None | None | None | N |
| V/P | 0.9926 | likely_pathogenic | 0.9917 | pathogenic | -1.036 | Destabilizing | 0.967 | D | 0.782 | deleterious | None | None | None | None | N |
| V/Q | 0.9807 | likely_pathogenic | 0.9812 | pathogenic | -1.456 | Destabilizing | 0.967 | D | 0.773 | deleterious | None | None | None | None | N |
| V/R | 0.9793 | likely_pathogenic | 0.9803 | pathogenic | -1.015 | Destabilizing | 0.906 | D | 0.815 | deleterious | None | None | None | None | N |
| V/S | 0.8584 | likely_pathogenic | 0.8586 | pathogenic | -2.022 | Highly Destabilizing | 0.906 | D | 0.769 | deleterious | None | None | None | None | N |
| V/T | 0.6283 | likely_pathogenic | 0.6209 | pathogenic | -1.811 | Destabilizing | 0.575 | D | 0.664 | neutral | None | None | None | None | N |
| V/W | 0.9952 | likely_pathogenic | 0.9953 | pathogenic | -1.554 | Destabilizing | 0.991 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Y | 0.9828 | likely_pathogenic | 0.9829 | pathogenic | -1.224 | Destabilizing | 0.906 | D | 0.779 | 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.