Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32684 | 98275;98276;98277 | chr2:178540116;178540115;178540114 | chr2:179404843;179404842;179404841 |
| N2AB | 31043 | 93352;93353;93354 | chr2:178540116;178540115;178540114 | chr2:179404843;179404842;179404841 |
| N2A | 30116 | 90571;90572;90573 | chr2:178540116;178540115;178540114 | chr2:179404843;179404842;179404841 |
| N2B | 23619 | 71080;71081;71082 | chr2:178540116;178540115;178540114 | chr2:179404843;179404842;179404841 |
| Novex-1 | 23744 | 71455;71456;71457 | chr2:178540116;178540115;178540114 | chr2:179404843;179404842;179404841 |
| Novex-2 | 23811 | 71656;71657;71658 | chr2:178540116;178540115;178540114 | chr2:179404843;179404842;179404841 |
| 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 | rs774041992  |
-0.705 | 1.0 | D | 0.697 | 0.65 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/A | rs774041992 |
-0.705 | 1.0 | D | 0.697 | 0.65 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs774041992 |
-0.705 | 1.0 | D | 0.697 | 0.65 | None | gnomAD-4.0.0 | 2.6698E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.56709E-05 | 0 | 1.60472E-05 |
| G/D | rs774041992 |
-1.791 | 1.0 | D | 0.87 | 0.662 | 0.539159600622 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/D | rs774041992 |
-1.791 | 1.0 | D | 0.87 | 0.662 | 0.539159600622 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.77555E-04 |
| G/D | rs774041992 |
-1.791 | 1.0 | D | 0.87 | 0.662 | 0.539159600622 | gnomAD-4.0.0 | 3.7253E-06 | None | None | None | None | N | None | 0 | 1.66828E-05 | None | 0 | 0 | None | 0 | 0 | 2.54792E-06 | 0 | 3.20945E-05 |
| G/S | None | None | 1.0 | N | 0.813 | 0.468 | 0.301122078929 | gnomAD-4.0.0 | 1.57701E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.0732E-05 | 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 | 0.522 | ambiguous | 0.5965 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.540189223 | None | None | N |
| G/C | 0.8642 | likely_pathogenic | 0.9098 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.553319955 | None | None | N |
| G/D | 0.9652 | likely_pathogenic | 0.9765 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.552305997 | None | None | N |
| G/E | 0.9732 | likely_pathogenic | 0.9829 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| G/F | 0.9936 | likely_pathogenic | 0.9962 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/H | 0.9883 | likely_pathogenic | 0.9924 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/I | 0.9876 | likely_pathogenic | 0.9937 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/K | 0.9935 | likely_pathogenic | 0.9962 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/L | 0.9816 | likely_pathogenic | 0.9881 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/M | 0.9861 | likely_pathogenic | 0.9919 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/N | 0.9734 | likely_pathogenic | 0.982 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/P | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| G/Q | 0.9802 | likely_pathogenic | 0.987 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/R | 0.9777 | likely_pathogenic | 0.9862 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.534455232 | None | None | N |
| G/S | 0.2858 | likely_benign | 0.325 | benign | -1.285 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.480254061 | None | None | N |
| G/T | 0.8465 | likely_pathogenic | 0.8937 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| G/V | 0.9633 | likely_pathogenic | 0.9794 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.552812976 | None | None | N |
| G/W | 0.9871 | likely_pathogenic | 0.9919 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/Y | 0.9912 | likely_pathogenic | 0.9948 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.883 | 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.