Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22090 | 66493;66494;66495 | chr2:178582101;178582100;178582099 | chr2:179446828;179446827;179446826 |
| N2AB | 20449 | 61570;61571;61572 | chr2:178582101;178582100;178582099 | chr2:179446828;179446827;179446826 |
| N2A | 19522 | 58789;58790;58791 | chr2:178582101;178582100;178582099 | chr2:179446828;179446827;179446826 |
| N2B | 13025 | 39298;39299;39300 | chr2:178582101;178582100;178582099 | chr2:179446828;179446827;179446826 |
| Novex-1 | 13150 | 39673;39674;39675 | chr2:178582101;178582100;178582099 | chr2:179446828;179446827;179446826 |
| Novex-2 | 13217 | 39874;39875;39876 | chr2:178582101;178582100;178582099 | chr2:179446828;179446827;179446826 |
| 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/C | rs760647730  |
-0.966 | 1.0 | D | 0.841 | 0.812 | 0.846533080652 | 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 |
| Y/C | rs760647730 |
-0.966 | 1.0 | D | 0.841 | 0.812 | 0.846533080652 | gnomAD-4.0.0 | 3.84702E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18377E-06 | 0 | 0 |
| Y/H | rs2047908666 |
None | 1.0 | D | 0.8 | 0.799 | 0.722208356312 | gnomAD-4.0.0 | 1.59283E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86004E-06 | 0 | 0 |
| Y/S | rs760647730 |
None | 1.0 | D | 0.871 | 0.827 | 0.861501398838 | 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 |
| Y/S | rs760647730 |
None | 1.0 | D | 0.871 | 0.827 | 0.861501398838 | gnomAD-4.0.0 | 5.12936E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57836E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9991 | likely_pathogenic | 0.9983 | pathogenic | -3.463 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| Y/C | 0.9774 | likely_pathogenic | 0.9563 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.652334012 | None | None | N |
| Y/D | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -3.695 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.65273762 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.492 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/F | 0.3212 | likely_benign | 0.237 | benign | -1.617 | Destabilizing | 0.999 | D | 0.645 | neutral | D | 0.537616108 | None | None | N |
| Y/G | 0.9962 | likely_pathogenic | 0.9945 | pathogenic | -3.824 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/H | 0.9922 | likely_pathogenic | 0.9859 | pathogenic | -2.686 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.652334012 | None | None | N |
| Y/I | 0.9872 | likely_pathogenic | 0.9777 | pathogenic | -2.221 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -2.437 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| Y/L | 0.9687 | likely_pathogenic | 0.9521 | pathogenic | -2.221 | Highly Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| Y/M | 0.9935 | likely_pathogenic | 0.9883 | pathogenic | -1.752 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| Y/N | 0.9894 | likely_pathogenic | 0.9852 | pathogenic | -3.179 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.65273762 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.655 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| Y/Q | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -2.929 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| Y/R | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -2.251 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| Y/S | 0.9954 | likely_pathogenic | 0.9925 | pathogenic | -3.403 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.636486095 | None | None | N |
| Y/T | 0.9987 | likely_pathogenic | 0.9976 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/V | 0.9826 | likely_pathogenic | 0.9706 | pathogenic | -2.655 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| Y/W | 0.9144 | likely_pathogenic | 0.8816 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.784 | 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.