Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17781 | 53566;53567;53568 | chr2:178607261;178607260;178607259 | chr2:179471988;179471987;179471986 |
| N2AB | 16140 | 48643;48644;48645 | chr2:178607261;178607260;178607259 | chr2:179471988;179471987;179471986 |
| N2A | 15213 | 45862;45863;45864 | chr2:178607261;178607260;178607259 | chr2:179471988;179471987;179471986 |
| N2B | 8716 | 26371;26372;26373 | chr2:178607261;178607260;178607259 | chr2:179471988;179471987;179471986 |
| Novex-1 | 8841 | 26746;26747;26748 | chr2:178607261;178607260;178607259 | chr2:179471988;179471987;179471986 |
| Novex-2 | 8908 | 26947;26948;26949 | chr2:178607261;178607260;178607259 | chr2:179471988;179471987;179471986 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs1427330384  |
-2.339 | 0.27 | N | 0.658 | 0.203 | 0.536051623013 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| C/S | rs1427330384 |
-2.339 | 0.27 | N | 0.658 | 0.203 | 0.536051623013 | gnomAD-4.0.0 | 6.16144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09827E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7166 | likely_pathogenic | 0.7508 | pathogenic | -1.694 | Destabilizing | 0.003 | N | 0.205 | neutral | None | None | None | None | N |
| C/D | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -1.834 | Destabilizing | 0.828 | D | 0.797 | deleterious | None | None | None | None | N |
| C/E | 0.9988 | likely_pathogenic | 0.9994 | pathogenic | -1.586 | Destabilizing | 0.704 | D | 0.79 | deleterious | None | None | None | None | N |
| C/F | 0.8207 | likely_pathogenic | 0.8883 | pathogenic | -1.129 | Destabilizing | 0.642 | D | 0.783 | deleterious | N | 0.51255012 | None | None | N |
| C/G | 0.8132 | likely_pathogenic | 0.8372 | pathogenic | -2.062 | Highly Destabilizing | 0.473 | N | 0.723 | prob.delet. | N | 0.46243788 | None | None | N |
| C/H | 0.9937 | likely_pathogenic | 0.997 | pathogenic | -2.39 | Highly Destabilizing | 0.995 | D | 0.784 | deleterious | None | None | None | None | N |
| C/I | 0.6511 | likely_pathogenic | 0.6949 | pathogenic | -0.697 | Destabilizing | 0.013 | N | 0.433 | neutral | None | None | None | None | N |
| C/K | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -1.295 | Destabilizing | 0.704 | D | 0.773 | deleterious | None | None | None | None | N |
| C/L | 0.635 | likely_pathogenic | 0.7255 | pathogenic | -0.697 | Destabilizing | 0.085 | N | 0.514 | neutral | None | None | None | None | N |
| C/M | 0.7552 | likely_pathogenic | 0.8515 | pathogenic | 0.125 | Stabilizing | 0.085 | N | 0.515 | neutral | None | None | None | None | N |
| C/N | 0.9884 | likely_pathogenic | 0.9924 | pathogenic | -1.987 | Destabilizing | 0.944 | D | 0.815 | deleterious | None | None | None | None | N |
| C/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.007 | Destabilizing | 0.944 | D | 0.81 | deleterious | None | None | None | None | N |
| C/Q | 0.9938 | likely_pathogenic | 0.9971 | pathogenic | -1.47 | Destabilizing | 0.944 | D | 0.811 | deleterious | None | None | None | None | N |
| C/R | 0.9948 | likely_pathogenic | 0.9972 | pathogenic | -1.755 | Destabilizing | 0.927 | D | 0.819 | deleterious | N | 0.47395877 | None | None | N |
| C/S | 0.8672 | likely_pathogenic | 0.8899 | pathogenic | -2.248 | Highly Destabilizing | 0.27 | N | 0.658 | neutral | N | 0.462184391 | None | None | N |
| C/T | 0.8628 | likely_pathogenic | 0.8995 | pathogenic | -1.811 | Destabilizing | 0.495 | N | 0.658 | neutral | None | None | None | None | N |
| C/V | 0.5137 | ambiguous | 0.5241 | ambiguous | -1.007 | Destabilizing | 0.013 | N | 0.438 | neutral | None | None | None | None | N |
| C/W | 0.9904 | likely_pathogenic | 0.9941 | pathogenic | -1.602 | Destabilizing | 0.993 | D | 0.753 | deleterious | N | 0.47395877 | None | None | N |
| C/Y | 0.9589 | likely_pathogenic | 0.977 | pathogenic | -1.374 | Destabilizing | 0.975 | D | 0.81 | deleterious | N | 0.47370528 | 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.