Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23223 | 69892;69893;69894 | chr2:178576577;178576576;178576575 | chr2:179441304;179441303;179441302 |
| N2AB | 21582 | 64969;64970;64971 | chr2:178576577;178576576;178576575 | chr2:179441304;179441303;179441302 |
| N2A | 20655 | 62188;62189;62190 | chr2:178576577;178576576;178576575 | chr2:179441304;179441303;179441302 |
| N2B | 14158 | 42697;42698;42699 | chr2:178576577;178576576;178576575 | chr2:179441304;179441303;179441302 |
| Novex-1 | 14283 | 43072;43073;43074 | chr2:178576577;178576576;178576575 | chr2:179441304;179441303;179441302 |
| Novex-2 | 14350 | 43273;43274;43275 | chr2:178576577;178576576;178576575 | chr2:179441304;179441303;179441302 |
| 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/C | None | None | 1.0 | D | 0.875 | 0.6 | 0.85179336191 | gnomAD-4.0.0 | 2.0529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69867E-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 | 0.8005 | likely_pathogenic | 0.8495 | pathogenic | -0.762 | Destabilizing | 0.991 | D | 0.717 | prob.delet. | D | 0.533333277 | None | None | N |
| G/C | 0.9468 | likely_pathogenic | 0.9665 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.55245149 | None | None | N |
| G/D | 0.9953 | likely_pathogenic | 0.9961 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.540588206 | None | None | N |
| G/E | 0.9963 | likely_pathogenic | 0.997 | pathogenic | -1.46 | Destabilizing | 0.999 | D | 0.911 | deleterious | None | None | None | None | N |
| G/F | 0.9954 | likely_pathogenic | 0.9962 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| G/H | 0.9953 | likely_pathogenic | 0.9967 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/I | 0.9938 | likely_pathogenic | 0.9956 | pathogenic | -0.284 | Destabilizing | 0.998 | D | 0.904 | deleterious | None | None | None | None | N |
| G/K | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -1.322 | Destabilizing | 0.999 | D | 0.91 | deleterious | None | None | None | None | N |
| G/L | 0.9906 | likely_pathogenic | 0.9928 | pathogenic | -0.284 | Destabilizing | 0.998 | D | 0.883 | deleterious | None | None | None | None | N |
| G/M | 0.9962 | likely_pathogenic | 0.9973 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/N | 0.9917 | likely_pathogenic | 0.9943 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/P | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| G/Q | 0.9951 | likely_pathogenic | 0.9961 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| G/R | 0.9951 | likely_pathogenic | 0.9962 | pathogenic | -1.045 | Destabilizing | 0.999 | D | 0.911 | deleterious | D | 0.539574248 | None | None | N |
| G/S | 0.4524 | ambiguous | 0.515 | ambiguous | -1.3 | Destabilizing | 0.999 | D | 0.847 | deleterious | N | 0.446704422 | None | None | N |
| G/T | 0.9533 | likely_pathogenic | 0.9685 | pathogenic | -1.251 | Destabilizing | 0.999 | D | 0.905 | deleterious | None | None | None | None | N |
| G/V | 0.9896 | likely_pathogenic | 0.993 | pathogenic | -0.402 | Destabilizing | 0.777 | D | 0.747 | deleterious | D | 0.551944511 | None | None | N |
| G/W | 0.9926 | likely_pathogenic | 0.9941 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Y | 0.9954 | likely_pathogenic | 0.9964 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.931 | 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.