Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17129 | 51610;51611;51612 | chr2:178610141;178610140;178610139 | chr2:179474868;179474867;179474866 |
| N2AB | 15488 | 46687;46688;46689 | chr2:178610141;178610140;178610139 | chr2:179474868;179474867;179474866 |
| N2A | 14561 | 43906;43907;43908 | chr2:178610141;178610140;178610139 | chr2:179474868;179474867;179474866 |
| N2B | 8064 | 24415;24416;24417 | chr2:178610141;178610140;178610139 | chr2:179474868;179474867;179474866 |
| Novex-1 | 8189 | 24790;24791;24792 | chr2:178610141;178610140;178610139 | chr2:179474868;179474867;179474866 |
| Novex-2 | 8256 | 24991;24992;24993 | chr2:178610141;178610140;178610139 | chr2:179474868;179474867;179474866 |
| 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 | rs1372930722  |
None | 1.0 | N | 0.771 | 0.503 | 0.332646915603 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94932E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1372930722 |
None | 1.0 | N | 0.771 | 0.503 | 0.332646915603 | gnomAD-4.0.0 | 3.10016E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.23754E-05 | None | 0 | 0 | 2.54383E-06 | 0 | 1.60226E-05 |
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 | 0.0894 | likely_benign | 0.1115 | benign | -0.783 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.374777248 | None | None | I |
| G/C | 0.196 | likely_benign | 0.2657 | benign | -0.964 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/D | 0.5152 | ambiguous | 0.6106 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/E | 0.4098 | ambiguous | 0.4958 | ambiguous | -1.233 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.398902114 | None | None | I |
| G/F | 0.6023 | likely_pathogenic | 0.7022 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/H | 0.6 | likely_pathogenic | 0.6822 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/I | 0.2796 | likely_benign | 0.3876 | ambiguous | -0.523 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/K | 0.7372 | likely_pathogenic | 0.81 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/L | 0.4659 | ambiguous | 0.5886 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/M | 0.4521 | ambiguous | 0.5567 | ambiguous | -0.448 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/N | 0.3857 | ambiguous | 0.5107 | ambiguous | -0.963 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/P | 0.5521 | ambiguous | 0.6226 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/Q | 0.4981 | ambiguous | 0.5778 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/R | 0.6152 | likely_pathogenic | 0.7 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.41597051 | None | None | I |
| G/S | 0.0868 | likely_benign | 0.1151 | benign | -1.199 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/T | 0.1424 | likely_benign | 0.1933 | benign | -1.215 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/V | 0.1916 | likely_benign | 0.2701 | benign | -0.571 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.402425209 | None | None | I |
| G/W | 0.5671 | likely_pathogenic | 0.6457 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/Y | 0.5771 | likely_pathogenic | 0.6745 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.773 | 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.