Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19466 | 58621;58622;58623 | chr2:178593997;178593996;178593995 | chr2:179458724;179458723;179458722 |
| N2AB | 17825 | 53698;53699;53700 | chr2:178593997;178593996;178593995 | chr2:179458724;179458723;179458722 |
| N2A | 16898 | 50917;50918;50919 | chr2:178593997;178593996;178593995 | chr2:179458724;179458723;179458722 |
| N2B | 10401 | 31426;31427;31428 | chr2:178593997;178593996;178593995 | chr2:179458724;179458723;179458722 |
| Novex-1 | 10526 | 31801;31802;31803 | chr2:178593997;178593996;178593995 | chr2:179458724;179458723;179458722 |
| Novex-2 | 10593 | 32002;32003;32004 | chr2:178593997;178593996;178593995 | chr2:179458724;179458723;179458722 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs201922910  |
-0.001 | 1.0 | D | 0.612 | 0.565 | None | gnomAD-2.1.1 | 1.57206E-04 | None | None | None | None | I | None | 0 | 8.49E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.12901E-04 | 1.4041E-04 |
| G/A | rs201922910 |
-0.001 | 1.0 | D | 0.612 | 0.565 | None | gnomAD-3.1.2 | 1.70976E-04 | None | None | None | None | I | None | 4.83E-05 | 1.31079E-04 | 0 | 0 | 0 | None | 0 | 0 | 3.2351E-04 | 0 | 0 |
| G/A | rs201922910 |
-0.001 | 1.0 | D | 0.612 | 0.565 | None | gnomAD-4.0.0 | 2.4358E-04 | None | None | None | None | I | None | 5.34045E-05 | 1.33418E-04 | None | 0 | 0 | None | 0 | 0 | 3.15342E-04 | 0 | 1.44138E-04 |
| G/D | None | None | 1.0 | D | 0.805 | 0.525 | 0.63623802299 | gnomAD-4.0.0 | 6.8429E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-05 | 0 |
| G/S | None | None | 1.0 | D | 0.767 | 0.556 | 0.579890812634 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8238 | likely_pathogenic | 0.8348 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.612 | neutral | D | 0.584584807 | None | None | I |
| G/C | 0.9308 | likely_pathogenic | 0.9491 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.60715478 | None | None | I |
| G/D | 0.9731 | likely_pathogenic | 0.9792 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.589520985 | None | None | I |
| G/E | 0.9825 | likely_pathogenic | 0.9852 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/F | 0.9918 | likely_pathogenic | 0.9909 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/H | 0.9912 | likely_pathogenic | 0.9923 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/I | 0.9854 | likely_pathogenic | 0.9863 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/K | 0.9907 | likely_pathogenic | 0.9925 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/L | 0.9885 | likely_pathogenic | 0.9886 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/M | 0.9921 | likely_pathogenic | 0.9917 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/N | 0.9776 | likely_pathogenic | 0.9797 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/Q | 0.9808 | likely_pathogenic | 0.9833 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/R | 0.9692 | likely_pathogenic | 0.9759 | pathogenic | -0.162 | Destabilizing | 0.953 | D | 0.608 | neutral | D | 0.62216512 | None | None | I |
| G/S | 0.7792 | likely_pathogenic | 0.789 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.589319181 | None | None | I |
| G/T | 0.9525 | likely_pathogenic | 0.9542 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/V | 0.9691 | likely_pathogenic | 0.9725 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.622770533 | None | None | I |
| G/W | 0.9891 | likely_pathogenic | 0.9888 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/Y | 0.9892 | likely_pathogenic | 0.989 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
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.