Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16452 | 49579;49580;49581 | chr2:178613929;178613928;178613927 | chr2:179478656;179478655;179478654 |
| N2AB | 14811 | 44656;44657;44658 | chr2:178613929;178613928;178613927 | chr2:179478656;179478655;179478654 |
| N2A | 13884 | 41875;41876;41877 | chr2:178613929;178613928;178613927 | chr2:179478656;179478655;179478654 |
| N2B | 7387 | 22384;22385;22386 | chr2:178613929;178613928;178613927 | chr2:179478656;179478655;179478654 |
| Novex-1 | 7512 | 22759;22760;22761 | chr2:178613929;178613928;178613927 | chr2:179478656;179478655;179478654 |
| Novex-2 | 7579 | 22960;22961;22962 | chr2:178613929;178613928;178613927 | chr2:179478656;179478655;179478654 |
| 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 | None | None | 1.0 | N | 0.863 | 0.375 | 0.353548585375 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | rs1408239835  |
-0.688 | 1.0 | D | 0.867 | 0.409 | 0.609443766403 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.01E-06 | 0 |
| G/R | rs1408239835 |
-0.688 | 1.0 | D | 0.867 | 0.409 | 0.609443766403 | gnomAD-4.0.0 | 3.43566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50953E-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 | 0.3382 | likely_benign | 0.3019 | benign | -0.868 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.594042794 | None | None | N |
| G/C | 0.647 | likely_pathogenic | 0.628 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.719018209 | None | None | N |
| G/D | 0.7768 | likely_pathogenic | 0.7546 | pathogenic | -2.303 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.459106192 | None | None | N |
| G/E | 0.8163 | likely_pathogenic | 0.7868 | pathogenic | -2.336 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/F | 0.934 | likely_pathogenic | 0.9121 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/H | 0.925 | likely_pathogenic | 0.8993 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/I | 0.898 | likely_pathogenic | 0.8735 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/K | 0.9346 | likely_pathogenic | 0.9106 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/L | 0.8307 | likely_pathogenic | 0.7753 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/M | 0.8937 | likely_pathogenic | 0.867 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/N | 0.8113 | likely_pathogenic | 0.7758 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/P | 0.9919 | likely_pathogenic | 0.9901 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/Q | 0.8778 | likely_pathogenic | 0.837 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/R | 0.8993 | likely_pathogenic | 0.8636 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.658064343 | None | None | N |
| G/S | 0.2347 | likely_benign | 0.2231 | benign | -1.427 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.513774526 | None | None | N |
| G/T | 0.6293 | likely_pathogenic | 0.5928 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/V | 0.827 | likely_pathogenic | 0.7861 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.642735075 | None | None | N |
| G/W | 0.9308 | likely_pathogenic | 0.9062 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/Y | 0.9089 | likely_pathogenic | 0.8848 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.853 | 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.