Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21893 | 65902;65903;65904 | chr2:178583126;178583125;178583124 | chr2:179447853;179447852;179447851 |
| N2AB | 20252 | 60979;60980;60981 | chr2:178583126;178583125;178583124 | chr2:179447853;179447852;179447851 |
| N2A | 19325 | 58198;58199;58200 | chr2:178583126;178583125;178583124 | chr2:179447853;179447852;179447851 |
| N2B | 12828 | 38707;38708;38709 | chr2:178583126;178583125;178583124 | chr2:179447853;179447852;179447851 |
| Novex-1 | 12953 | 39082;39083;39084 | chr2:178583126;178583125;178583124 | chr2:179447853;179447852;179447851 |
| Novex-2 | 13020 | 39283;39284;39285 | chr2:178583126;178583125;178583124 | chr2:179447853;179447852;179447851 |
| 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/T | rs1381716551  |
-1.322 | 1.0 | D | 0.871 | 0.696 | 0.74284823637 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| P/T | rs1381716551 |
-1.322 | 1.0 | D | 0.871 | 0.696 | 0.74284823637 | gnomAD-4.0.0 | 1.59517E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86444E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9122 | likely_pathogenic | 0.9223 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.50740616 | None | None | N |
| P/C | 0.9952 | likely_pathogenic | 0.996 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/E | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/G | 0.9924 | likely_pathogenic | 0.9928 | pathogenic | -1.794 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/H | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/I | 0.9932 | likely_pathogenic | 0.994 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/L | 0.9766 | likely_pathogenic | 0.9761 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.532165778 | None | None | N |
| P/M | 0.9967 | likely_pathogenic | 0.9969 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/Q | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.563226636 | None | None | N |
| P/R | 0.9965 | likely_pathogenic | 0.9968 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.563226636 | None | None | N |
| P/S | 0.9938 | likely_pathogenic | 0.9948 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.533259096 | None | None | N |
| P/T | 0.9911 | likely_pathogenic | 0.9926 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.539842462 | None | None | N |
| P/V | 0.9808 | likely_pathogenic | 0.9831 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.855 | 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.