Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27891 | 83896;83897;83898 | chr2:178562461;178562460;178562459 | chr2:179427188;179427187;179427186 |
| N2AB | 26250 | 78973;78974;78975 | chr2:178562461;178562460;178562459 | chr2:179427188;179427187;179427186 |
| N2A | 25323 | 76192;76193;76194 | chr2:178562461;178562460;178562459 | chr2:179427188;179427187;179427186 |
| N2B | 18826 | 56701;56702;56703 | chr2:178562461;178562460;178562459 | chr2:179427188;179427187;179427186 |
| Novex-1 | 18951 | 57076;57077;57078 | chr2:178562461;178562460;178562459 | chr2:179427188;179427187;179427186 |
| Novex-2 | 19018 | 57277;57278;57279 | chr2:178562461;178562460;178562459 | chr2:179427188;179427187;179427186 |
| 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/D | rs1184831372  |
-0.476 | 1.0 | N | 0.839 | 0.57 | 0.452834868696 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66058E-04 |
| G/D | rs1184831372 |
-0.476 | 1.0 | N | 0.839 | 0.57 | 0.452834868696 | gnomAD-4.0.0 | 6.84436E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65728E-05 |
| G/V | rs1184831372 |
-0.213 | 1.0 | D | 0.846 | 0.487 | 0.629905473701 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/V | rs1184831372 |
-0.213 | 1.0 | D | 0.846 | 0.487 | 0.629905473701 | gnomAD-4.0.0 | 2.73774E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5984E-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 | 0.8771 | likely_pathogenic | 0.9099 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.506741147 | None | None | I |
| G/C | 0.9586 | likely_pathogenic | 0.9721 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.548825461 | None | None | I |
| G/D | 0.9934 | likely_pathogenic | 0.9951 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.512564044 | None | None | I |
| G/E | 0.9937 | likely_pathogenic | 0.996 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/F | 0.9945 | likely_pathogenic | 0.9963 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/H | 0.9927 | likely_pathogenic | 0.9956 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9947 | likely_pathogenic | 0.9969 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/K | 0.9916 | likely_pathogenic | 0.9956 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/L | 0.9925 | likely_pathogenic | 0.9951 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/M | 0.9955 | likely_pathogenic | 0.9974 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/N | 0.9886 | likely_pathogenic | 0.9921 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/Q | 0.9891 | likely_pathogenic | 0.9934 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/R | 0.9681 | likely_pathogenic | 0.9811 | pathogenic | -0.204 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.503600822 | None | None | I |
| G/S | 0.8335 | likely_pathogenic | 0.8711 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.508689704 | None | None | I |
| G/T | 0.9783 | likely_pathogenic | 0.9853 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/V | 0.9896 | likely_pathogenic | 0.9938 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.525694776 | None | None | I |
| G/W | 0.9902 | likely_pathogenic | 0.9929 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9909 | likely_pathogenic | 0.9939 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.816 | 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.