Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32904 | 98935;98936;98937 | chr2:178539225;178539224;178539223 | chr2:179403952;179403951;179403950 |
| N2AB | 31263 | 94012;94013;94014 | chr2:178539225;178539224;178539223 | chr2:179403952;179403951;179403950 |
| N2A | 30336 | 91231;91232;91233 | chr2:178539225;178539224;178539223 | chr2:179403952;179403951;179403950 |
| N2B | 23839 | 71740;71741;71742 | chr2:178539225;178539224;178539223 | chr2:179403952;179403951;179403950 |
| Novex-1 | 23964 | 72115;72116;72117 | chr2:178539225;178539224;178539223 | chr2:179403952;179403951;179403950 |
| Novex-2 | 24031 | 72316;72317;72318 | chr2:178539225;178539224;178539223 | chr2:179403952;179403951;179403950 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs1233228834  |
None | 1.0 | N | 0.847 | 0.389 | 0.394079506076 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1233228834 |
None | 1.0 | N | 0.847 | 0.389 | 0.394079506076 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6258 | likely_pathogenic | 0.5241 | ambiguous | -1.851 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.487586935 | None | None | N |
| P/C | 0.9629 | likely_pathogenic | 0.9297 | pathogenic | -1.664 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/D | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -2.619 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/E | 0.9926 | likely_pathogenic | 0.9917 | pathogenic | -2.44 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/F | 0.9908 | likely_pathogenic | 0.9831 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/G | 0.9808 | likely_pathogenic | 0.9711 | pathogenic | -2.338 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/H | 0.9926 | likely_pathogenic | 0.9912 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/I | 0.7693 | likely_pathogenic | 0.6419 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/K | 0.9955 | likely_pathogenic | 0.9955 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/L | 0.6484 | likely_pathogenic | 0.5075 | ambiguous | -0.515 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.490225047 | None | None | N |
| P/M | 0.9295 | likely_pathogenic | 0.8783 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/N | 0.9969 | likely_pathogenic | 0.9959 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/Q | 0.9845 | likely_pathogenic | 0.9828 | pathogenic | -1.62 | Destabilizing | 1.0 | D | 0.878 | deleterious | N | 0.479877934 | None | None | N |
| P/R | 0.9888 | likely_pathogenic | 0.989 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.886 | deleterious | N | 0.494525922 | None | None | N |
| P/S | 0.9579 | likely_pathogenic | 0.9459 | pathogenic | -2.272 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.499703709 | None | None | N |
| P/T | 0.8694 | likely_pathogenic | 0.8138 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.494018943 | None | None | N |
| P/V | 0.6197 | likely_pathogenic | 0.4568 | ambiguous | -0.932 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/W | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/Y | 0.9966 | likely_pathogenic | 0.9952 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.879 | 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.