Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25868 | 77827;77828;77829 | chr2:178568530;178568529;178568528 | chr2:179433257;179433256;179433255 |
| N2AB | 24227 | 72904;72905;72906 | chr2:178568530;178568529;178568528 | chr2:179433257;179433256;179433255 |
| N2A | 23300 | 70123;70124;70125 | chr2:178568530;178568529;178568528 | chr2:179433257;179433256;179433255 |
| N2B | 16803 | 50632;50633;50634 | chr2:178568530;178568529;178568528 | chr2:179433257;179433256;179433255 |
| Novex-1 | 16928 | 51007;51008;51009 | chr2:178568530;178568529;178568528 | chr2:179433257;179433256;179433255 |
| Novex-2 | 16995 | 51208;51209;51210 | chr2:178568530;178568529;178568528 | chr2:179433257;179433256;179433255 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs755691336  |
-2.193 | 1.0 | D | 0.785 | 0.826 | 0.670162060137 | gnomAD-2.1.1 | 4.65E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.17093E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/H | rs755691336 |
-2.193 | 1.0 | D | 0.785 | 0.826 | 0.670162060137 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.87147E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs755691336 |
-2.193 | 1.0 | D | 0.785 | 0.826 | 0.670162060137 | gnomAD-4.0.0 | 1.36367E-05 | None | None | None | None | N | None | 1.33558E-05 | 0 | None | 0 | 3.79312E-04 | None | 0 | 0 | 8.47774E-07 | 3.2941E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9957 | likely_pathogenic | 0.9954 | pathogenic | -2.115 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/C | 0.9505 | likely_pathogenic | 0.9458 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.660388335 | None | None | N |
| Y/D | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -2.516 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.660388335 | None | None | N |
| Y/E | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.272 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| Y/F | 0.2018 | likely_benign | 0.2165 | benign | -0.624 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | D | 0.586429611 | None | None | N |
| Y/G | 0.9925 | likely_pathogenic | 0.9926 | pathogenic | -2.571 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/H | 0.9745 | likely_pathogenic | 0.9803 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.660186531 | None | None | N |
| Y/I | 0.9407 | likely_pathogenic | 0.9351 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/K | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/L | 0.9035 | likely_pathogenic | 0.8916 | pathogenic | -0.62 | Destabilizing | 0.999 | D | 0.792 | deleterious | None | None | None | None | N |
| Y/M | 0.9769 | likely_pathogenic | 0.9744 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| Y/N | 0.991 | likely_pathogenic | 0.991 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.660388335 | None | None | N |
| Y/P | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| Y/Q | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -2.004 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| Y/R | 0.9951 | likely_pathogenic | 0.9952 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/S | 0.9937 | likely_pathogenic | 0.9936 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.660388335 | None | None | N |
| Y/T | 0.9956 | likely_pathogenic | 0.9955 | pathogenic | -2.428 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| Y/V | 0.9292 | likely_pathogenic | 0.922 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| Y/W | 0.7739 | likely_pathogenic | 0.7818 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.783 | 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.