Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32668 | 98227;98228;98229 | chr2:178540164;178540163;178540162 | chr2:179404891;179404890;179404889 |
| N2AB | 31027 | 93304;93305;93306 | chr2:178540164;178540163;178540162 | chr2:179404891;179404890;179404889 |
| N2A | 30100 | 90523;90524;90525 | chr2:178540164;178540163;178540162 | chr2:179404891;179404890;179404889 |
| N2B | 23603 | 71032;71033;71034 | chr2:178540164;178540163;178540162 | chr2:179404891;179404890;179404889 |
| Novex-1 | 23728 | 71407;71408;71409 | chr2:178540164;178540163;178540162 | chr2:179404891;179404890;179404889 |
| Novex-2 | 23795 | 71608;71609;71610 | chr2:178540164;178540163;178540162 | chr2:179404891;179404890;179404889 |
| 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/D | rs1185928509  |
-1.216 | 1.0 | N | 0.807 | 0.436 | 0.386071988338 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.15882E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1185928509 |
-1.216 | 1.0 | N | 0.807 | 0.436 | 0.386071988338 | gnomAD-4.0.0 | 7.95623E-06 | None | None | None | None | N | None | 0 | 6.85902E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.04705E-05 |
| G/V | rs1185928509 |
None | 1.0 | N | 0.845 | 0.509 | 0.854898549611 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1185928509 |
None | 1.0 | N | 0.845 | 0.509 | 0.854898549611 | gnomAD-4.0.0 | 6.57237E-06 | None | None | None | None | N | None | 2.41266E-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 | 0.4332 | ambiguous | 0.4 | ambiguous | -0.582 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.482634001 | None | None | N |
| G/C | 0.6115 | likely_pathogenic | 0.5655 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.537658009 | None | None | N |
| G/D | 0.3597 | ambiguous | 0.3166 | benign | -1.011 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.505653938 | None | None | N |
| G/E | 0.5271 | ambiguous | 0.4816 | ambiguous | -1.158 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/F | 0.8827 | likely_pathogenic | 0.8661 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/H | 0.7595 | likely_pathogenic | 0.74 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/I | 0.8801 | likely_pathogenic | 0.8392 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/K | 0.854 | likely_pathogenic | 0.8422 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/L | 0.8085 | likely_pathogenic | 0.7889 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/M | 0.8039 | likely_pathogenic | 0.7816 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/N | 0.3616 | ambiguous | 0.3307 | benign | -0.8 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/P | 0.9927 | likely_pathogenic | 0.989 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Q | 0.7092 | likely_pathogenic | 0.6873 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.8103 | likely_pathogenic | 0.8037 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.500182052 | None | None | N |
| G/S | 0.2827 | likely_benign | 0.2664 | benign | -0.945 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.479645033 | None | None | N |
| G/T | 0.5622 | ambiguous | 0.4976 | ambiguous | -1.031 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/V | 0.7719 | likely_pathogenic | 0.724 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.50291753 | None | None | N |
| G/W | 0.8176 | likely_pathogenic | 0.7923 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/Y | 0.7478 | likely_pathogenic | 0.7135 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.813 | 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.