Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5858 | 17797;17798;17799 | chr2:178731093;178731092;178731091 | chr2:179595820;179595819;179595818 |
| N2AB | 5541 | 16846;16847;16848 | chr2:178731093;178731092;178731091 | chr2:179595820;179595819;179595818 |
| N2A | 4614 | 14065;14066;14067 | chr2:178731093;178731092;178731091 | chr2:179595820;179595819;179595818 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs757260797  |
-1.47 | 0.968 | N | 0.58 | 0.398 | 0.226586394389 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 8.86E-06 | 0 |
| K/N | rs757260797 |
-1.47 | 0.968 | N | 0.58 | 0.398 | 0.226586394389 | gnomAD-4.0.0 | 4.7743E-06 | None | None | None | None | N | None | 0 | 2.28686E-05 | None | 0 | 2.77346E-05 | None | 0 | 0 | 2.85866E-06 | 0 | 0 |
| K/Q | rs376347879 |
-1.158 | 0.968 | N | 0.575 | 0.35 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| K/Q | rs376347879 |
-1.158 | 0.968 | N | 0.575 | 0.35 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs376347879 |
-1.158 | 0.968 | N | 0.575 | 0.35 | None | gnomAD-4.0.0 | 9.91547E-06 | None | None | None | None | N | None | 1.33504E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01717E-05 | 1.09784E-05 | 3.20246E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9396 | likely_pathogenic | 0.9586 | pathogenic | -1.127 | Destabilizing | 0.919 | D | 0.569 | neutral | None | None | None | None | N |
| K/C | 0.9101 | likely_pathogenic | 0.9327 | pathogenic | -1.114 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| K/D | 0.9922 | likely_pathogenic | 0.9955 | pathogenic | -0.452 | Destabilizing | 0.988 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/E | 0.8363 | likely_pathogenic | 0.8975 | pathogenic | -0.269 | Destabilizing | 0.896 | D | 0.564 | neutral | N | 0.505420793 | None | None | N |
| K/F | 0.9362 | likely_pathogenic | 0.9593 | pathogenic | -0.71 | Destabilizing | 0.976 | D | 0.823 | deleterious | None | None | None | None | N |
| K/G | 0.9745 | likely_pathogenic | 0.9827 | pathogenic | -1.548 | Destabilizing | 0.988 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/H | 0.6137 | likely_pathogenic | 0.6036 | pathogenic | -1.772 | Destabilizing | 0.997 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/I | 0.8041 | likely_pathogenic | 0.8791 | pathogenic | 0.007 | Stabilizing | 0.938 | D | 0.778 | deleterious | N | 0.49756998 | None | None | N |
| K/L | 0.7479 | likely_pathogenic | 0.8177 | pathogenic | 0.007 | Stabilizing | 0.034 | N | 0.487 | neutral | None | None | None | None | N |
| K/M | 0.6567 | likely_pathogenic | 0.761 | pathogenic | -0.11 | Destabilizing | 0.976 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/N | 0.9636 | likely_pathogenic | 0.9769 | pathogenic | -0.944 | Destabilizing | 0.968 | D | 0.58 | neutral | N | 0.516688193 | None | None | N |
| K/P | 0.9969 | likely_pathogenic | 0.9976 | pathogenic | -0.343 | Destabilizing | 0.996 | D | 0.723 | prob.delet. | None | None | None | None | N |
| K/Q | 0.4741 | ambiguous | 0.5324 | ambiguous | -0.899 | Destabilizing | 0.968 | D | 0.575 | neutral | N | 0.481947714 | None | None | N |
| K/R | 0.1067 | likely_benign | 0.0983 | benign | -0.765 | Destabilizing | 0.026 | N | 0.235 | neutral | N | 0.49198006 | None | None | N |
| K/S | 0.962 | likely_pathogenic | 0.9748 | pathogenic | -1.714 | Destabilizing | 0.919 | D | 0.584 | neutral | None | None | None | None | N |
| K/T | 0.8974 | likely_pathogenic | 0.9356 | pathogenic | -1.283 | Destabilizing | 0.984 | D | 0.649 | neutral | N | 0.493557509 | None | None | N |
| K/V | 0.8041 | likely_pathogenic | 0.8679 | pathogenic | -0.343 | Destabilizing | 0.851 | D | 0.668 | neutral | None | None | None | None | N |
| K/W | 0.9197 | likely_pathogenic | 0.9299 | pathogenic | -0.535 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| K/Y | 0.8753 | likely_pathogenic | 0.9064 | pathogenic | -0.244 | Destabilizing | 0.996 | D | 0.779 | 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.