Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8278 | 25057;25058;25059 | chr2:178718174;178718173;178718172 | chr2:179582901;179582900;179582899 |
| N2AB | 7961 | 24106;24107;24108 | chr2:178718174;178718173;178718172 | chr2:179582901;179582900;179582899 |
| N2A | 7034 | 21325;21326;21327 | chr2:178718174;178718173;178718172 | chr2:179582901;179582900;179582899 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs778611558  |
-0.587 | 0.896 | D | 0.342 | 0.55 | 0.528959857459 | gnomAD-2.1.1 | 4.75E-05 | None | None | None | None | I | None | 0 | 3.68794E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs778611558 |
-0.587 | 0.896 | D | 0.342 | 0.55 | 0.528959857459 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 3.27397E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs778611558 |
-0.587 | 0.896 | D | 0.342 | 0.55 | 0.528959857459 | gnomAD-4.0.0 | 3.36686E-05 | None | None | None | None | I | None | 0 | 3.39282E-04 | None | 0 | 0 | None | 0 | 2.24316E-04 | 4.79138E-06 | 0 | 8.55334E-05 |
| G/R | rs1406754899 |
-0.726 | 1.0 | D | 0.811 | 0.596 | 0.871362720137 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1406754899 |
-0.726 | 1.0 | D | 0.811 | 0.596 | 0.871362720137 | gnomAD-4.0.0 | 1.6128E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77346E-05 | 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 | 0.4602 | ambiguous | 0.5819 | pathogenic | -0.42 | Destabilizing | 0.896 | D | 0.342 | neutral | D | 0.618718345 | None | None | I |
| G/C | 0.6931 | likely_pathogenic | 0.81 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/D | 0.3894 | ambiguous | 0.5075 | ambiguous | -0.832 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/E | 0.5007 | ambiguous | 0.6514 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.588749463 | None | None | I |
| G/F | 0.9169 | likely_pathogenic | 0.9532 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/H | 0.7434 | likely_pathogenic | 0.8354 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/I | 0.9038 | likely_pathogenic | 0.956 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/K | 0.7927 | likely_pathogenic | 0.8924 | pathogenic | -1.128 | Destabilizing | 0.985 | D | 0.541 | neutral | None | None | None | None | I |
| G/L | 0.8357 | likely_pathogenic | 0.8897 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/M | 0.8848 | likely_pathogenic | 0.9311 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/N | 0.495 | ambiguous | 0.5407 | ambiguous | -0.752 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/P | 0.982 | likely_pathogenic | 0.9924 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/Q | 0.6459 | likely_pathogenic | 0.7616 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/R | 0.6194 | likely_pathogenic | 0.7818 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.611026551 | None | None | I |
| G/S | 0.2156 | likely_benign | 0.2598 | benign | -0.9 | Destabilizing | 0.995 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/T | 0.5516 | ambiguous | 0.6794 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/V | 0.8103 | likely_pathogenic | 0.9101 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.63096235 | None | None | I |
| G/W | 0.761 | likely_pathogenic | 0.8658 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/Y | 0.8386 | likely_pathogenic | 0.9057 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.833 | 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.