Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27451 | 82576;82577;82578 | chr2:178563781;178563780;178563779 | chr2:179428508;179428507;179428506 |
| N2AB | 25810 | 77653;77654;77655 | chr2:178563781;178563780;178563779 | chr2:179428508;179428507;179428506 |
| N2A | 24883 | 74872;74873;74874 | chr2:178563781;178563780;178563779 | chr2:179428508;179428507;179428506 |
| N2B | 18386 | 55381;55382;55383 | chr2:178563781;178563780;178563779 | chr2:179428508;179428507;179428506 |
| Novex-1 | 18511 | 55756;55757;55758 | chr2:178563781;178563780;178563779 | chr2:179428508;179428507;179428506 |
| Novex-2 | 18578 | 55957;55958;55959 | chr2:178563781;178563780;178563779 | chr2:179428508;179428507;179428506 |
| 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 | rs528438328  |
-0.48 | 1.0 | D | 0.899 | 0.722 | 0.781349308307 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs528438328 |
-0.48 | 1.0 | D | 0.899 | 0.722 | 0.781349308307 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs528438328 |
-0.48 | 1.0 | D | 0.899 | 0.722 | 0.781349308307 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/R | rs528438328 |
-0.48 | 1.0 | D | 0.899 | 0.722 | 0.781349308307 | gnomAD-4.0.0 | 6.56996E-06 | None | None | None | None | I | None | 2.40743E-05 | 0 | 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 | 0.8448 | likely_pathogenic | 0.8462 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.561227356 | None | None | I |
| G/C | 0.9263 | likely_pathogenic | 0.9254 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/D | 0.9513 | likely_pathogenic | 0.9609 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/E | 0.9766 | likely_pathogenic | 0.9815 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.572583662 | None | None | I |
| G/F | 0.9916 | likely_pathogenic | 0.9928 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/H | 0.9817 | likely_pathogenic | 0.9835 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/I | 0.9878 | likely_pathogenic | 0.9902 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/K | 0.9854 | likely_pathogenic | 0.9872 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/L | 0.9852 | likely_pathogenic | 0.9866 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/M | 0.9916 | likely_pathogenic | 0.9923 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/N | 0.9609 | likely_pathogenic | 0.9669 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/P | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/Q | 0.9687 | likely_pathogenic | 0.9725 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/R | 0.9488 | likely_pathogenic | 0.9521 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.561480846 | None | None | I |
| G/S | 0.6959 | likely_pathogenic | 0.6971 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/T | 0.9516 | likely_pathogenic | 0.9568 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/V | 0.9775 | likely_pathogenic | 0.9807 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.541161318 | None | None | I |
| G/W | 0.982 | likely_pathogenic | 0.984 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/Y | 0.984 | likely_pathogenic | 0.9866 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.877 | 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.