Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31142 | 93649;93650;93651 | chr2:178548202;178548201;178548200 | chr2:179412929;179412928;179412927 |
| N2AB | 29501 | 88726;88727;88728 | chr2:178548202;178548201;178548200 | chr2:179412929;179412928;179412927 |
| N2A | 28574 | 85945;85946;85947 | chr2:178548202;178548201;178548200 | chr2:179412929;179412928;179412927 |
| N2B | 22077 | 66454;66455;66456 | chr2:178548202;178548201;178548200 | chr2:179412929;179412928;179412927 |
| Novex-1 | 22202 | 66829;66830;66831 | chr2:178548202;178548201;178548200 | chr2:179412929;179412928;179412927 |
| Novex-2 | 22269 | 67030;67031;67032 | chr2:178548202;178548201;178548200 | chr2:179412929;179412928;179412927 |
| 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/D | rs1559166976  |
None | 1.0 | N | 0.67 | 0.598 | 0.509878532422 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1559166976 |
None | 1.0 | N | 0.67 | 0.598 | 0.509878532422 | gnomAD-4.0.0 | 2.56201E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.7857E-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 | 0.901 | likely_pathogenic | 0.879 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.491943299 | None | None | I |
| G/C | 0.9591 | likely_pathogenic | 0.9437 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.552549941 | None | None | I |
| G/D | 0.9825 | likely_pathogenic | 0.9768 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.517302483 | None | None | I |
| G/E | 0.9885 | likely_pathogenic | 0.9852 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/F | 0.9886 | likely_pathogenic | 0.9853 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/H | 0.9892 | likely_pathogenic | 0.9846 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/I | 0.9862 | likely_pathogenic | 0.9825 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/K | 0.9889 | likely_pathogenic | 0.9858 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/L | 0.9852 | likely_pathogenic | 0.9828 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/M | 0.9918 | likely_pathogenic | 0.9902 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/N | 0.9731 | likely_pathogenic | 0.9665 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| G/P | 0.9975 | likely_pathogenic | 0.9968 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/Q | 0.9837 | likely_pathogenic | 0.9788 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/R | 0.9703 | likely_pathogenic | 0.9578 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.511061512 | None | None | I |
| G/S | 0.8239 | likely_pathogenic | 0.7697 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.500007922 | None | None | I |
| G/T | 0.9705 | likely_pathogenic | 0.96 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/V | 0.9774 | likely_pathogenic | 0.9726 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.541029052 | None | None | I |
| G/W | 0.9846 | likely_pathogenic | 0.9767 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/Y | 0.9864 | likely_pathogenic | 0.9819 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.763 | 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.