Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32820 | 98683;98684;98685 | chr2:178539607;178539606;178539605 | chr2:179404334;179404333;179404332 |
| N2AB | 31179 | 93760;93761;93762 | chr2:178539607;178539606;178539605 | chr2:179404334;179404333;179404332 |
| N2A | 30252 | 90979;90980;90981 | chr2:178539607;178539606;178539605 | chr2:179404334;179404333;179404332 |
| N2B | 23755 | 71488;71489;71490 | chr2:178539607;178539606;178539605 | chr2:179404334;179404333;179404332 |
| Novex-1 | 23880 | 71863;71864;71865 | chr2:178539607;178539606;178539605 | chr2:179404334;179404333;179404332 |
| Novex-2 | 23947 | 72064;72065;72066 | chr2:178539607;178539606;178539605 | chr2:179404334;179404333;179404332 |
| 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/S | rs769919302  |
-1.948 | 1.0 | D | 0.833 | 0.651 | 0.651299431776 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/S | rs769919302 |
-1.948 | 1.0 | D | 0.833 | 0.651 | 0.651299431776 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs769919302 |
-1.948 | 1.0 | D | 0.833 | 0.651 | 0.651299431776 | gnomAD-4.0.0 | 8.9673E-06 | None | None | None | None | N | None | 1.69193E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43576E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5739 | likely_pathogenic | 0.4428 | ambiguous | -2.067 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.595825125 | None | None | N |
| P/C | 0.9372 | likely_pathogenic | 0.8949 | pathogenic | -1.662 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/D | 0.9967 | likely_pathogenic | 0.9947 | pathogenic | -2.792 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/E | 0.9895 | likely_pathogenic | 0.9811 | pathogenic | -2.729 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.9972 | likely_pathogenic | 0.9948 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/G | 0.9683 | likely_pathogenic | 0.9497 | pathogenic | -2.465 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/H | 0.9872 | likely_pathogenic | 0.977 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.641500841 | None | None | N |
| P/I | 0.9569 | likely_pathogenic | 0.9091 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/K | 0.9949 | likely_pathogenic | 0.9914 | pathogenic | -1.855 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/L | 0.8968 | likely_pathogenic | 0.819 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.657318398 | None | None | N |
| P/M | 0.9764 | likely_pathogenic | 0.9546 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/N | 0.9935 | likely_pathogenic | 0.9877 | pathogenic | -1.865 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Q | 0.9806 | likely_pathogenic | 0.962 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/R | 0.9852 | likely_pathogenic | 0.9753 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.615962729 | None | None | N |
| P/S | 0.9035 | likely_pathogenic | 0.8231 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.570347734 | None | None | N |
| P/T | 0.8521 | likely_pathogenic | 0.727 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.587669002 | None | None | N |
| P/V | 0.8506 | likely_pathogenic | 0.7305 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9985 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/Y | 0.9977 | likely_pathogenic | 0.9958 | pathogenic | -1.666 | 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.