Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10148 | 30667;30668;30669 | chr2:178702237;178702236;178702235 | chr2:179566964;179566963;179566962 |
| N2AB | 9831 | 29716;29717;29718 | chr2:178702237;178702236;178702235 | chr2:179566964;179566963;179566962 |
| N2A | 8904 | 26935;26936;26937 | chr2:178702237;178702236;178702235 | chr2:179566964;179566963;179566962 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs766069724  |
-1.674 | 1.0 | None | 0.807 | 0.348 | 0.487983534966 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.23E-05 | 1.39978E-04 |
| S/L | rs766069724 |
-1.674 | 1.0 | None | 0.807 | 0.348 | 0.487983534966 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/L | rs766069724 |
-1.674 | 1.0 | None | 0.807 | 0.348 | 0.487983534966 | gnomAD-4.0.0 | 1.4252E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.68092E-05 | None | 0 | 0 | 1.61032E-05 | 0 | 1.60113E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4463 | ambiguous | 0.4803 | ambiguous | -0.737 | Destabilizing | 0.997 | D | 0.704 | prob.neutral | None | None | None | None | N |
| S/C | 0.7128 | likely_pathogenic | 0.7697 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| S/D | 0.9814 | likely_pathogenic | 0.987 | pathogenic | -0.823 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| S/E | 0.9674 | likely_pathogenic | 0.977 | pathogenic | -0.589 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| S/F | 0.9456 | likely_pathogenic | 0.9675 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| S/G | 0.7675 | likely_pathogenic | 0.8019 | pathogenic | -1.148 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| S/H | 0.9182 | likely_pathogenic | 0.9426 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| S/I | 0.9342 | likely_pathogenic | 0.9569 | pathogenic | 0.332 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| S/K | 0.9967 | likely_pathogenic | 0.9976 | pathogenic | 0.553 | Stabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| S/L | 0.8176 | likely_pathogenic | 0.8771 | pathogenic | 0.332 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| S/M | 0.8262 | likely_pathogenic | 0.8861 | pathogenic | 0.077 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| S/N | 0.879 | likely_pathogenic | 0.909 | pathogenic | -0.19 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| S/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| S/Q | 0.9465 | likely_pathogenic | 0.9569 | pathogenic | 0.107 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| S/R | 0.9914 | likely_pathogenic | 0.9932 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| S/T | 0.4006 | ambiguous | 0.4747 | ambiguous | 0.1 | Stabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| S/V | 0.9184 | likely_pathogenic | 0.9443 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| S/W | 0.9491 | likely_pathogenic | 0.9661 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| S/Y | 0.8757 | likely_pathogenic | 0.9228 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.895 | 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.