Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20703 | 62332;62333;62334 | chr2:178589618;178589617;178589616 | chr2:179454345;179454344;179454343 |
| N2AB | 19062 | 57409;57410;57411 | chr2:178589618;178589617;178589616 | chr2:179454345;179454344;179454343 |
| N2A | 18135 | 54628;54629;54630 | chr2:178589618;178589617;178589616 | chr2:179454345;179454344;179454343 |
| N2B | 11638 | 35137;35138;35139 | chr2:178589618;178589617;178589616 | chr2:179454345;179454344;179454343 |
| Novex-1 | 11763 | 35512;35513;35514 | chr2:178589618;178589617;178589616 | chr2:179454345;179454344;179454343 |
| Novex-2 | 11830 | 35713;35714;35715 | chr2:178589618;178589617;178589616 | chr2:179454345;179454344;179454343 |
| 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 | None | None | 1.0 | D | 0.921 | 0.806 | 0.808259596967 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| Y/C | None | None | 1.0 | D | 0.921 | 0.806 | 0.808259596967 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| Y/H | rs774199758  |
-3.025 | 1.0 | D | 0.817 | 0.785 | 0.677296958874 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| Y/H | rs774199758 |
-3.025 | 1.0 | D | 0.817 | 0.785 | 0.677296958874 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs774199758 |
-3.025 | 1.0 | D | 0.817 | 0.785 | 0.677296958874 | gnomAD-4.0.0 | 1.42574E-05 | None | None | None | None | N | None | 1.33558E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.86517E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -3.798 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/C | 0.9328 | likely_pathogenic | 0.9477 | pathogenic | -2.198 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.612651703 | None | None | N |
| Y/D | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -3.894 | Highly Destabilizing | 1.0 | D | 0.945 | deleterious | D | 0.629105033 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.698 | Highly Destabilizing | 1.0 | D | 0.942 | deleterious | None | None | None | None | N |
| Y/F | 0.4238 | ambiguous | 0.4482 | ambiguous | -1.497 | Destabilizing | 0.999 | D | 0.659 | neutral | D | 0.571842522 | None | None | N |
| Y/G | 0.994 | likely_pathogenic | 0.9944 | pathogenic | -4.171 | Highly Destabilizing | 1.0 | D | 0.949 | deleterious | None | None | None | None | N |
| Y/H | 0.9874 | likely_pathogenic | 0.9874 | pathogenic | -2.695 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.628499621 | None | None | N |
| Y/I | 0.9895 | likely_pathogenic | 0.9905 | pathogenic | -2.522 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| Y/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.559 | Highly Destabilizing | 1.0 | D | 0.94 | deleterious | None | None | None | None | N |
| Y/L | 0.9745 | likely_pathogenic | 0.9786 | pathogenic | -2.522 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| Y/M | 0.9947 | likely_pathogenic | 0.9954 | pathogenic | -2.262 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| Y/N | 0.9906 | likely_pathogenic | 0.99 | pathogenic | -3.242 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | D | 0.628903229 | None | None | N |
| Y/P | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.967 | Highly Destabilizing | 1.0 | D | 0.96 | deleterious | None | None | None | None | N |
| Y/Q | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.043 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/R | 0.997 | likely_pathogenic | 0.9971 | pathogenic | -2.181 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| Y/S | 0.9885 | likely_pathogenic | 0.989 | pathogenic | -3.583 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | D | 0.628903229 | None | None | N |
| Y/T | 0.997 | likely_pathogenic | 0.9969 | pathogenic | -3.281 | Highly Destabilizing | 1.0 | D | 0.942 | deleterious | None | None | None | None | N |
| Y/V | 0.9767 | likely_pathogenic | 0.9811 | pathogenic | -2.967 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/W | 0.8383 | likely_pathogenic | 0.8532 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.801 | 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.