Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33771 | 101536;101537;101538 | chr2:178535304;178535303;178535302 | chr2:179400031;179400030;179400029 |
| N2AB | 32130 | 96613;96614;96615 | chr2:178535304;178535303;178535302 | chr2:179400031;179400030;179400029 |
| N2A | 31203 | 93832;93833;93834 | chr2:178535304;178535303;178535302 | chr2:179400031;179400030;179400029 |
| N2B | 24706 | 74341;74342;74343 | chr2:178535304;178535303;178535302 | chr2:179400031;179400030;179400029 |
| Novex-1 | 24831 | 74716;74717;74718 | chr2:178535304;178535303;178535302 | chr2:179400031;179400030;179400029 |
| Novex-2 | 24898 | 74917;74918;74919 | chr2:178535304;178535303;178535302 | chr2:179400031;179400030;179400029 |
| 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/C | None | None | 1.0 | D | 0.849 | 0.664 | 0.677953048899 | gnomAD-4.0.0 | 2.73672E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59772E-06 | 0 | 0 |
| S/R | None | None | 1.0 | D | 0.859 | 0.634 | 0.50857664894 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6456 | likely_pathogenic | 0.6162 | pathogenic | -0.727 | Destabilizing | 0.994 | D | 0.733 | prob.delet. | None | None | None | None | N |
| S/C | 0.8601 | likely_pathogenic | 0.8557 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.554528632 | None | None | N |
| S/D | 0.9949 | likely_pathogenic | 0.9965 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| S/E | 0.9965 | likely_pathogenic | 0.9976 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| S/F | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| S/G | 0.3909 | ambiguous | 0.3537 | ambiguous | -1.078 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.480619421 | None | None | N |
| S/H | 0.9952 | likely_pathogenic | 0.9962 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| S/I | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | 0.135 | Stabilizing | 1.0 | D | 0.918 | deleterious | D | 0.543172327 | None | None | N |
| S/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| S/L | 0.9853 | likely_pathogenic | 0.9871 | pathogenic | 0.135 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| S/M | 0.9947 | likely_pathogenic | 0.9946 | pathogenic | 0.142 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| S/N | 0.9798 | likely_pathogenic | 0.9852 | pathogenic | -1.115 | Destabilizing | 0.998 | D | 0.744 | deleterious | D | 0.553007695 | None | None | N |
| S/P | 0.9956 | likely_pathogenic | 0.9973 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| S/Q | 0.9959 | likely_pathogenic | 0.9967 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| S/R | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.535410419 | None | None | N |
| S/T | 0.8752 | likely_pathogenic | 0.8759 | pathogenic | -0.913 | Destabilizing | 0.998 | D | 0.731 | prob.delet. | D | 0.553261184 | None | None | N |
| S/V | 0.995 | likely_pathogenic | 0.9955 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| S/W | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| S/Y | 0.996 | likely_pathogenic | 0.9974 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.918 | 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.