Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3112 | 9559;9560;9561 | chr2:178767896;178767895;178767894 | chr2:179632623;179632622;179632621 |
| N2AB | 3112 | 9559;9560;9561 | chr2:178767896;178767895;178767894 | chr2:179632623;179632622;179632621 |
| N2A | 3112 | 9559;9560;9561 | chr2:178767896;178767895;178767894 | chr2:179632623;179632622;179632621 |
| N2B | 3066 | 9421;9422;9423 | chr2:178767896;178767895;178767894 | chr2:179632623;179632622;179632621 |
| Novex-1 | 3066 | 9421;9422;9423 | chr2:178767896;178767895;178767894 | chr2:179632623;179632622;179632621 |
| Novex-2 | 3066 | 9421;9422;9423 | chr2:178767896;178767895;178767894 | chr2:179632623;179632622;179632621 |
| Novex-3 | 3112 | 9559;9560;9561 | chr2:178767896;178767895;178767894 | chr2:179632623;179632622;179632621 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | rs1381688014  |
-0.379 | 1.0 | D | 0.801 | 0.783 | 0.83770713637 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 0 | 0 |
| H/L | rs1381688014 |
-0.379 | 1.0 | D | 0.801 | 0.783 | 0.83770713637 | gnomAD-4.0.0 | 1.59061E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88196E-05 | 0 | 0 | 0 | 0 |
| H/Y | None | None | 0.999 | D | 0.601 | 0.648 | 0.526232973257 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.956 | likely_pathogenic | 0.973 | pathogenic | -2.146 | Highly Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| H/C | 0.6478 | likely_pathogenic | 0.7373 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| H/D | 0.9806 | likely_pathogenic | 0.9861 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.655131564 | None | None | N |
| H/E | 0.9753 | likely_pathogenic | 0.9815 | pathogenic | -1.95 | Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | None | N |
| H/F | 0.8399 | likely_pathogenic | 0.8862 | pathogenic | 0.069 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| H/G | 0.9764 | likely_pathogenic | 0.9831 | pathogenic | -2.578 | Highly Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| H/I | 0.9492 | likely_pathogenic | 0.969 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| H/K | 0.9639 | likely_pathogenic | 0.9761 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| H/L | 0.7224 | likely_pathogenic | 0.8008 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.577674891 | None | None | N |
| H/M | 0.9468 | likely_pathogenic | 0.9649 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| H/N | 0.7339 | likely_pathogenic | 0.811 | pathogenic | -2.286 | Highly Destabilizing | 0.999 | D | 0.577 | neutral | D | 0.609220365 | None | None | N |
| H/P | 0.9915 | likely_pathogenic | 0.991 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.633816085 | None | None | N |
| H/Q | 0.8405 | likely_pathogenic | 0.8784 | pathogenic | -1.81 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.506704214 | None | None | N |
| H/R | 0.8633 | likely_pathogenic | 0.8974 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.49896564 | None | None | N |
| H/S | 0.875 | likely_pathogenic | 0.916 | pathogenic | -2.422 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| H/T | 0.9513 | likely_pathogenic | 0.9709 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| H/V | 0.9285 | likely_pathogenic | 0.954 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| H/W | 0.8621 | likely_pathogenic | 0.8783 | pathogenic | 0.68 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| H/Y | 0.4734 | ambiguous | 0.59 | pathogenic | 0.339 | Stabilizing | 0.999 | D | 0.601 | neutral | D | 0.52839983 | 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.