Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23728 | 71407;71408;71409 | chr2:178574950;178574949;178574948 | chr2:179439677;179439676;179439675 |
| N2AB | 22087 | 66484;66485;66486 | chr2:178574950;178574949;178574948 | chr2:179439677;179439676;179439675 |
| N2A | 21160 | 63703;63704;63705 | chr2:178574950;178574949;178574948 | chr2:179439677;179439676;179439675 |
| N2B | 14663 | 44212;44213;44214 | chr2:178574950;178574949;178574948 | chr2:179439677;179439676;179439675 |
| Novex-1 | 14788 | 44587;44588;44589 | chr2:178574950;178574949;178574948 | chr2:179439677;179439676;179439675 |
| Novex-2 | 14855 | 44788;44789;44790 | chr2:178574950;178574949;178574948 | chr2:179439677;179439676;179439675 |
| 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/A | rs781300567  |
-0.587 | 1.0 | N | 0.683 | 0.414 | 0.321951552304 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs781300567 |
-0.587 | 1.0 | N | 0.683 | 0.414 | 0.321951552304 | gnomAD-4.0.0 | 1.5928E-06 | None | None | None | None | N | None | 0 | 2.28791E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.831 | 0.587 | 0.569278965934 | gnomAD-4.0.0 | 1.59271E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86005E-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 | 0.3713 | ambiguous | 0.3047 | benign | -0.884 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.482534053 | None | None | N |
| G/C | 0.6816 | likely_pathogenic | 0.5347 | ambiguous | -1.188 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/D | 0.7474 | likely_pathogenic | 0.667 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/E | 0.807 | likely_pathogenic | 0.6882 | pathogenic | -2.127 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.504397289 | None | None | N |
| G/F | 0.94 | likely_pathogenic | 0.8917 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/H | 0.9292 | likely_pathogenic | 0.8736 | pathogenic | -1.507 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/I | 0.9127 | likely_pathogenic | 0.8105 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/K | 0.9417 | likely_pathogenic | 0.8824 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/L | 0.8336 | likely_pathogenic | 0.7312 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/M | 0.899 | likely_pathogenic | 0.8122 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/N | 0.7852 | likely_pathogenic | 0.6925 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| G/P | 0.9929 | likely_pathogenic | 0.991 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/Q | 0.8691 | likely_pathogenic | 0.7787 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/R | 0.9064 | likely_pathogenic | 0.8285 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.505918227 | None | None | N |
| G/S | 0.2279 | likely_benign | 0.1824 | benign | -1.42 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/T | 0.6374 | likely_pathogenic | 0.4869 | ambiguous | -1.386 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/V | 0.849 | likely_pathogenic | 0.7088 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.506932185 | None | None | N |
| G/W | 0.9311 | likely_pathogenic | 0.8748 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.507185674 | None | None | N |
| G/Y | 0.9171 | likely_pathogenic | 0.8561 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
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.