Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20991 | 63196;63197;63198 | chr2:178588754;178588753;178588752 | chr2:179453481;179453480;179453479 |
| N2AB | 19350 | 58273;58274;58275 | chr2:178588754;178588753;178588752 | chr2:179453481;179453480;179453479 |
| N2A | 18423 | 55492;55493;55494 | chr2:178588754;178588753;178588752 | chr2:179453481;179453480;179453479 |
| N2B | 11926 | 36001;36002;36003 | chr2:178588754;178588753;178588752 | chr2:179453481;179453480;179453479 |
| Novex-1 | 12051 | 36376;36377;36378 | chr2:178588754;178588753;178588752 | chr2:179453481;179453480;179453479 |
| Novex-2 | 12118 | 36577;36578;36579 | chr2:178588754;178588753;178588752 | chr2:179453481;179453480;179453479 |
| 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 | rs368910900  |
-0.949 | 1.0 | N | 0.704 | 0.519 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs368910900 |
-0.949 | 1.0 | N | 0.704 | 0.519 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs368910900 |
-0.949 | 1.0 | N | 0.704 | 0.519 | None | gnomAD-4.0.0 | 6.57964E-06 | None | None | None | None | N | None | 2.41499E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1158285735 |
-1.515 | 1.0 | N | 0.792 | 0.466 | 0.348324211639 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1158285735 |
-1.515 | 1.0 | N | 0.792 | 0.466 | 0.348324211639 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.05382E-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 | 0.9081 | likely_pathogenic | 0.9054 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.515957859 | None | None | N |
| G/C | 0.9697 | likely_pathogenic | 0.9693 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.543723352 | None | None | N |
| G/D | 0.9939 | likely_pathogenic | 0.9926 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.51519739 | None | None | N |
| G/E | 0.996 | likely_pathogenic | 0.9954 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/F | 0.9973 | likely_pathogenic | 0.9969 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/H | 0.9955 | likely_pathogenic | 0.9939 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/I | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/K | 0.9949 | likely_pathogenic | 0.9936 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/L | 0.9962 | likely_pathogenic | 0.9957 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/M | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/N | 0.991 | likely_pathogenic | 0.9873 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/Q | 0.9945 | likely_pathogenic | 0.9933 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/R | 0.981 | likely_pathogenic | 0.9793 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.504094574 | None | None | N |
| G/S | 0.9052 | likely_pathogenic | 0.8988 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.503587595 | None | None | N |
| G/T | 0.9907 | likely_pathogenic | 0.9898 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/V | 0.9938 | likely_pathogenic | 0.9939 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.520592668 | None | None | N |
| G/W | 0.9931 | likely_pathogenic | 0.9923 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/Y | 0.9953 | likely_pathogenic | 0.9947 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.789 | 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.