Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25010 | 75253;75254;75255 | chr2:178571104;178571103;178571102 | chr2:179435831;179435830;179435829 |
| N2AB | 23369 | 70330;70331;70332 | chr2:178571104;178571103;178571102 | chr2:179435831;179435830;179435829 |
| N2A | 22442 | 67549;67550;67551 | chr2:178571104;178571103;178571102 | chr2:179435831;179435830;179435829 |
| N2B | 15945 | 48058;48059;48060 | chr2:178571104;178571103;178571102 | chr2:179435831;179435830;179435829 |
| Novex-1 | 16070 | 48433;48434;48435 | chr2:178571104;178571103;178571102 | chr2:179435831;179435830;179435829 |
| Novex-2 | 16137 | 48634;48635;48636 | chr2:178571104;178571103;178571102 | chr2:179435831;179435830;179435829 |
| 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/A | rs1239890589  |
-2.269 | 1.0 | D | 0.78 | 0.748 | 0.564392371781 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs1239890589 |
-2.269 | 1.0 | D | 0.78 | 0.748 | 0.564392371781 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77454E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs370712714 |
-0.561 | 1.0 | D | 0.906 | 0.725 | 0.859516108317 | gnomAD-2.1.1 | 4.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.26968E-04 | None | 0 | 0 | 0 |
| P/L | rs370712714 |
-0.561 | 1.0 | D | 0.906 | 0.725 | 0.859516108317 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.15282E-04 | 0 |
| P/L | rs370712714 |
-0.561 | 1.0 | D | 0.906 | 0.725 | 0.859516108317 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| P/L | rs370712714 |
-0.561 | 1.0 | D | 0.906 | 0.725 | 0.859516108317 | gnomAD-4.0.0 | 1.61154E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.85539E-04 | 0 |
| P/R | rs370712714 |
None | 1.0 | D | 0.927 | 0.754 | None | gnomAD-4.0.0 | 4.10608E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49793E-06 | 0 | 1.65706E-05 |
| P/S | rs1239890589 |
-2.802 | 1.0 | D | 0.857 | 0.765 | 0.579204274476 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| P/S | rs1239890589 |
-2.802 | 1.0 | D | 0.857 | 0.765 | 0.579204274476 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85943E-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 | 0.8077 | likely_pathogenic | 0.7977 | pathogenic | -2.26 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.5424589 | None | None | N |
| P/C | 0.9881 | likely_pathogenic | 0.9857 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.415 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/E | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -3.198 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/G | 0.994 | likely_pathogenic | 0.9932 | pathogenic | -2.748 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/H | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -2.363 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/I | 0.9877 | likely_pathogenic | 0.9857 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/L | 0.9576 | likely_pathogenic | 0.9486 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.54723184 | None | None | N |
| P/M | 0.9955 | likely_pathogenic | 0.9946 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/Q | 0.9972 | likely_pathogenic | 0.9968 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.577452869 | None | None | N |
| P/R | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -1.66 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.577452869 | None | None | N |
| P/S | 0.9859 | likely_pathogenic | 0.9837 | pathogenic | -2.792 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.559095124 | None | None | N |
| P/T | 0.978 | likely_pathogenic | 0.9744 | pathogenic | -2.446 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.545270057 | None | None | N |
| P/V | 0.9577 | likely_pathogenic | 0.952 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.927 | 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.