Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29167 | 87724;87725;87726 | chr2:178557855;178557854;178557853 | chr2:179422582;179422581;179422580 |
| N2AB | 27526 | 82801;82802;82803 | chr2:178557855;178557854;178557853 | chr2:179422582;179422581;179422580 |
| N2A | 26599 | 80020;80021;80022 | chr2:178557855;178557854;178557853 | chr2:179422582;179422581;179422580 |
| N2B | 20102 | 60529;60530;60531 | chr2:178557855;178557854;178557853 | chr2:179422582;179422581;179422580 |
| Novex-1 | 20227 | 60904;60905;60906 | chr2:178557855;178557854;178557853 | chr2:179422582;179422581;179422580 |
| Novex-2 | 20294 | 61105;61106;61107 | chr2:178557855;178557854;178557853 | chr2:179422582;179422581;179422580 |
| 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/R | None | None | 1.0 | D | 0.807 | 0.464 | 0.773638986022 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79885E-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 | 0.8754 | likely_pathogenic | 0.87 | pathogenic | -0.257 | Destabilizing | 0.999 | D | 0.514 | neutral | N | 0.508621387 | None | None | I |
| G/C | 0.9404 | likely_pathogenic | 0.9298 | pathogenic | -0.876 | Destabilizing | 0.964 | D | 0.595 | neutral | None | None | None | None | I |
| G/D | 0.9808 | likely_pathogenic | 0.9856 | pathogenic | 0.151 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/E | 0.9851 | likely_pathogenic | 0.9874 | pathogenic | 0.021 | Stabilizing | 1.0 | D | 0.797 | deleterious | D | 0.526195891 | None | None | I |
| G/F | 0.9888 | likely_pathogenic | 0.9884 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/H | 0.9903 | likely_pathogenic | 0.9911 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/I | 0.9827 | likely_pathogenic | 0.984 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/K | 0.9885 | likely_pathogenic | 0.9905 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/L | 0.9851 | likely_pathogenic | 0.9858 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/M | 0.9909 | likely_pathogenic | 0.9901 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.9781 | likely_pathogenic | 0.9747 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/P | 0.997 | likely_pathogenic | 0.9979 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/Q | 0.9831 | likely_pathogenic | 0.9826 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/R | 0.9675 | likely_pathogenic | 0.9743 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.522815303 | None | None | I |
| G/S | 0.8178 | likely_pathogenic | 0.8071 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| G/T | 0.9697 | likely_pathogenic | 0.9683 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/V | 0.9727 | likely_pathogenic | 0.975 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.540666068 | None | None | I |
| G/W | 0.9857 | likely_pathogenic | 0.9876 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Y | 0.9862 | likely_pathogenic | 0.9862 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.8 | 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.