Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25972 | 78139;78140;78141 | chr2:178568218;178568217;178568216 | chr2:179432945;179432944;179432943 |
| N2AB | 24331 | 73216;73217;73218 | chr2:178568218;178568217;178568216 | chr2:179432945;179432944;179432943 |
| N2A | 23404 | 70435;70436;70437 | chr2:178568218;178568217;178568216 | chr2:179432945;179432944;179432943 |
| N2B | 16907 | 50944;50945;50946 | chr2:178568218;178568217;178568216 | chr2:179432945;179432944;179432943 |
| Novex-1 | 17032 | 51319;51320;51321 | chr2:178568218;178568217;178568216 | chr2:179432945;179432944;179432943 |
| Novex-2 | 17099 | 51520;51521;51522 | chr2:178568218;178568217;178568216 | chr2:179432945;179432944;179432943 |
| 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 | rs752809281  |
-0.921 | 1.0 | D | 0.915 | 0.622 | 0.704446075704 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs752809281 |
-0.921 | 1.0 | D | 0.915 | 0.622 | 0.704446075704 | gnomAD-4.0.0 | 1.59173E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9287 | likely_pathogenic | 0.9509 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.554725534 | None | None | I |
| G/C | 0.9675 | likely_pathogenic | 0.9787 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/D | 0.9895 | likely_pathogenic | 0.9925 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | I |
| G/E | 0.9919 | likely_pathogenic | 0.9943 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.566588818 | None | None | I |
| G/F | 0.9945 | likely_pathogenic | 0.996 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/H | 0.9923 | likely_pathogenic | 0.9944 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/I | 0.9958 | likely_pathogenic | 0.9968 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/K | 0.992 | likely_pathogenic | 0.9938 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/L | 0.9932 | likely_pathogenic | 0.9947 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/M | 0.9969 | likely_pathogenic | 0.9979 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/N | 0.9883 | likely_pathogenic | 0.9917 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | I |
| G/Q | 0.9828 | likely_pathogenic | 0.9871 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | I |
| G/R | 0.9743 | likely_pathogenic | 0.9796 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.566588818 | None | None | I |
| G/S | 0.8412 | likely_pathogenic | 0.8873 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/T | 0.9831 | likely_pathogenic | 0.989 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/V | 0.9918 | likely_pathogenic | 0.9939 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.566081839 | None | None | I |
| G/W | 0.9937 | likely_pathogenic | 0.9944 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/Y | 0.9934 | likely_pathogenic | 0.9949 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.896 | 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.