Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32581 | 97966;97967;97968 | chr2:178541336;178541335;178541334 | chr2:179406063;179406062;179406061 |
| N2AB | 30940 | 93043;93044;93045 | chr2:178541336;178541335;178541334 | chr2:179406063;179406062;179406061 |
| N2A | 30013 | 90262;90263;90264 | chr2:178541336;178541335;178541334 | chr2:179406063;179406062;179406061 |
| N2B | 23516 | 70771;70772;70773 | chr2:178541336;178541335;178541334 | chr2:179406063;179406062;179406061 |
| Novex-1 | 23641 | 71146;71147;71148 | chr2:178541336;178541335;178541334 | chr2:179406063;179406062;179406061 |
| Novex-2 | 23708 | 71347;71348;71349 | chr2:178541336;178541335;178541334 | chr2:179406063;179406062;179406061 |
| 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 | None | None | 1.0 | D | 0.915 | 0.728 | 0.713459124465 | gnomAD-4.0.0 | 7.04619E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.2321E-05 | 0 |
| G/V | rs397517771  |
-0.183 | 1.0 | D | 0.897 | 0.7 | None | gnomAD-2.1.1 | 2.39287E-04 | None | None | None | None | I | None | 9.52E-05 | 3.47E-05 | None | 0 | 0 | None | 1.96094E-03 | None | 0 | 0 | 1.62443E-04 |
| G/V | rs397517771 |
-0.183 | 1.0 | D | 0.897 | 0.7 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.44928E-03 | 0 |
| G/V | rs397517771 |
-0.183 | 1.0 | D | 0.897 | 0.7 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 4.1E-03 | None |
| G/V | rs397517771 |
-0.183 | 1.0 | D | 0.897 | 0.7 | None | gnomAD-4.0.0 | 1.12637E-04 | None | None | None | None | I | None | 4.03042E-05 | 1.84775E-05 | None | 0 | 0 | None | 0 | 3.34001E-04 | 8.65615E-07 | 1.87235E-03 | 1.4772E-04 |
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 | 0.793 | likely_pathogenic | 0.8008 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.559827642 | None | None | I |
| G/C | 0.8908 | likely_pathogenic | 0.89 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/D | 0.9279 | likely_pathogenic | 0.9258 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
| G/E | 0.9547 | likely_pathogenic | 0.9531 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.548813732 | None | None | I |
| G/F | 0.9787 | likely_pathogenic | 0.979 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/H | 0.9766 | likely_pathogenic | 0.9757 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/I | 0.9636 | likely_pathogenic | 0.9669 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/K | 0.9758 | likely_pathogenic | 0.9753 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | I |
| G/L | 0.973 | likely_pathogenic | 0.9719 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/M | 0.9832 | likely_pathogenic | 0.9831 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/N | 0.952 | likely_pathogenic | 0.9476 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/P | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | I |
| G/Q | 0.9632 | likely_pathogenic | 0.9603 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
| G/R | 0.948 | likely_pathogenic | 0.9504 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.928 | deleterious | D | 0.528240715 | None | None | I |
| G/S | 0.6913 | likely_pathogenic | 0.6945 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/T | 0.9144 | likely_pathogenic | 0.9089 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/V | 0.937 | likely_pathogenic | 0.9415 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.536950447 | None | None | I |
| G/W | 0.9671 | likely_pathogenic | 0.9692 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.56109509 | None | None | I |
| G/Y | 0.9615 | likely_pathogenic | 0.9613 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.901 | 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.