Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31141 | 93646;93647;93648 | chr2:178548205;178548204;178548203 | chr2:179412932;179412931;179412930 |
| N2AB | 29500 | 88723;88724;88725 | chr2:178548205;178548204;178548203 | chr2:179412932;179412931;179412930 |
| N2A | 28573 | 85942;85943;85944 | chr2:178548205;178548204;178548203 | chr2:179412932;179412931;179412930 |
| N2B | 22076 | 66451;66452;66453 | chr2:178548205;178548204;178548203 | chr2:179412932;179412931;179412930 |
| Novex-1 | 22201 | 66826;66827;66828 | chr2:178548205;178548204;178548203 | chr2:179412932;179412931;179412930 |
| Novex-2 | 22268 | 67027;67028;67029 | chr2:178548205;178548204;178548203 | chr2:179412932;179412931;179412930 |
| 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/E | rs1184196122  |
-1.251 | 1.0 | N | 0.867 | 0.688 | 0.466655310336 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/E | rs1184196122 |
-1.251 | 1.0 | N | 0.867 | 0.688 | 0.466655310336 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9537 | likely_pathogenic | 0.9398 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.515793275 | None | None | I |
| G/C | 0.9888 | likely_pathogenic | 0.9828 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/D | 0.9963 | likely_pathogenic | 0.9945 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/E | 0.9974 | likely_pathogenic | 0.9962 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.515286296 | None | None | I |
| G/F | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/H | 0.9981 | likely_pathogenic | 0.997 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/I | 0.9984 | likely_pathogenic | 0.9977 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/K | 0.9972 | likely_pathogenic | 0.9958 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/L | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/M | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/N | 0.9965 | likely_pathogenic | 0.9951 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/Q | 0.997 | likely_pathogenic | 0.9953 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/R | 0.989 | likely_pathogenic | 0.9825 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.48961117 | None | None | I |
| G/S | 0.9428 | likely_pathogenic | 0.913 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/T | 0.9937 | likely_pathogenic | 0.9901 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/V | 0.9964 | likely_pathogenic | 0.9948 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.516807233 | None | None | I |
| G/W | 0.9955 | likely_pathogenic | 0.9933 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/Y | 0.9975 | likely_pathogenic | 0.9965 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.805 | 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.