Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1318 | 4177;4178;4179 | chr2:178779240;178779239;178779238 | chr2:179643967;179643966;179643965 |
| N2AB | 1318 | 4177;4178;4179 | chr2:178779240;178779239;178779238 | chr2:179643967;179643966;179643965 |
| N2A | 1318 | 4177;4178;4179 | chr2:178779240;178779239;178779238 | chr2:179643967;179643966;179643965 |
| N2B | 1272 | 4039;4040;4041 | chr2:178779240;178779239;178779238 | chr2:179643967;179643966;179643965 |
| Novex-1 | 1272 | 4039;4040;4041 | chr2:178779240;178779239;178779238 | chr2:179643967;179643966;179643965 |
| Novex-2 | 1272 | 4039;4040;4041 | chr2:178779240;178779239;178779238 | chr2:179643967;179643966;179643965 |
| Novex-3 | 1318 | 4177;4178;4179 | chr2:178779240;178779239;178779238 | chr2:179643967;179643966;179643965 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.724 | 0.831 | 0.63026181922 | gnomAD-4.0.0 | 6.84307E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65601E-05 |
| P/S | rs879048673  |
None | 1.0 | D | 0.746 | 0.834 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs879048673 |
None | 1.0 | D | 0.746 | 0.834 | None | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | I | None | 2.41441E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9371 | likely_pathogenic | 0.9391 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.768249929 | None | None | I |
| P/C | 0.9968 | likely_pathogenic | 0.9968 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| P/D | 0.9958 | likely_pathogenic | 0.9964 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| P/E | 0.9884 | likely_pathogenic | 0.9885 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| P/F | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| P/G | 0.9887 | likely_pathogenic | 0.9889 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| P/H | 0.9886 | likely_pathogenic | 0.9893 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| P/I | 0.9877 | likely_pathogenic | 0.9874 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| P/K | 0.9937 | likely_pathogenic | 0.9942 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| P/L | 0.9584 | likely_pathogenic | 0.9576 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.757713554 | None | None | I |
| P/M | 0.9937 | likely_pathogenic | 0.994 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/N | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/Q | 0.983 | likely_pathogenic | 0.9839 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.753554252 | None | None | I |
| P/R | 0.9792 | likely_pathogenic | 0.9804 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.78997626 | None | None | I |
| P/S | 0.9821 | likely_pathogenic | 0.9826 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.722688242 | None | None | I |
| P/T | 0.966 | likely_pathogenic | 0.9672 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.78997626 | None | None | I |
| P/V | 0.9692 | likely_pathogenic | 0.9699 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| P/W | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/Y | 0.9971 | likely_pathogenic | 0.997 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.818 | 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.