Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14008 | 42247;42248;42249 | chr2:178635167;178635166;178635165 | chr2:179499894;179499893;179499892 |
| N2AB | 12367 | 37324;37325;37326 | chr2:178635167;178635166;178635165 | chr2:179499894;179499893;179499892 |
| N2A | 11440 | 34543;34544;34545 | chr2:178635167;178635166;178635165 | chr2:179499894;179499893;179499892 |
| N2B | 4943 | 15052;15053;15054 | chr2:178635167;178635166;178635165 | chr2:179499894;179499893;179499892 |
| Novex-1 | 5068 | 15427;15428;15429 | chr2:178635167;178635166;178635165 | chr2:179499894;179499893;179499892 |
| Novex-2 | 5135 | 15628;15629;15630 | chr2:178635167;178635166;178635165 | chr2:179499894;179499893;179499892 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1455864622  |
0.079 | 0.999 | N | 0.682 | 0.332 | 0.300449992093 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/A | rs1455864622 |
0.079 | 0.999 | N | 0.682 | 0.332 | 0.300449992093 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/A | rs1455864622 |
0.079 | 0.999 | N | 0.682 | 0.332 | 0.300449992093 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47076E-05 | 0 | 0 |
| P/H | rs751709914 |
0.265 | 1.0 | N | 0.754 | 0.382 | 0.424789488895 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.59E-05 | None | 0 | 0 | 0 |
| P/H | rs751709914 |
0.265 | 1.0 | N | 0.754 | 0.382 | 0.424789488895 | gnomAD-4.0.0 | 5.47761E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99795E-07 | 8.1384E-05 | 0 |
| P/L | rs751709914 |
0.121 | 1.0 | N | 0.719 | 0.401 | 0.482574385019 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.69E-05 | 0 |
| P/L | rs751709914 |
0.121 | 1.0 | N | 0.719 | 0.401 | 0.482574385019 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| P/L | rs751709914 |
0.121 | 1.0 | N | 0.719 | 0.401 | 0.482574385019 | gnomAD-4.0.0 | 3.90688E-05 | None | None | None | None | N | None | 2.67222E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.91796E-05 | 0 | 4.80692E-05 |
| P/S | None | None | 1.0 | N | 0.696 | 0.274 | 0.302459207581 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4062 | ambiguous | 0.3376 | benign | -0.304 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | N | 0.412083635 | None | None | N |
| P/C | 0.9825 | likely_pathogenic | 0.9765 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/D | 0.8877 | likely_pathogenic | 0.8598 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.671 | prob.neutral | None | None | None | None | N |
| P/E | 0.7847 | likely_pathogenic | 0.7527 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.673 | prob.neutral | None | None | None | None | N |
| P/F | 0.9721 | likely_pathogenic | 0.9596 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/G | 0.8918 | likely_pathogenic | 0.8425 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/H | 0.8033 | likely_pathogenic | 0.748 | pathogenic | 0.017 | Stabilizing | 1.0 | D | 0.754 | deleterious | N | 0.503370876 | None | None | N |
| P/I | 0.9007 | likely_pathogenic | 0.8675 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/K | 0.8853 | likely_pathogenic | 0.827 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.671 | prob.neutral | None | None | None | None | N |
| P/L | 0.6935 | likely_pathogenic | 0.6086 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.465066221 | None | None | N |
| P/M | 0.9076 | likely_pathogenic | 0.8655 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| P/N | 0.8885 | likely_pathogenic | 0.8533 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/Q | 0.7159 | likely_pathogenic | 0.6361 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/R | 0.8012 | likely_pathogenic | 0.716 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.743 | deleterious | N | 0.412923522 | None | None | N |
| P/S | 0.6545 | likely_pathogenic | 0.5745 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.696 | prob.delet. | N | 0.456687761 | None | None | N |
| P/T | 0.6491 | likely_pathogenic | 0.5615 | ambiguous | -0.467 | Destabilizing | 1.0 | D | 0.673 | prob.neutral | N | 0.461783253 | None | None | N |
| P/V | 0.7973 | likely_pathogenic | 0.7309 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.724 | deleterious | None | None | None | None | N |
| P/W | 0.9879 | likely_pathogenic | 0.9823 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.729 | deleterious | None | None | None | None | N |
| P/Y | 0.962 | likely_pathogenic | 0.9425 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.777 | 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.