Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26508 | 79747;79748;79749 | chr2:178566610;178566609;178566608 | chr2:179431337;179431336;179431335 |
| N2AB | 24867 | 74824;74825;74826 | chr2:178566610;178566609;178566608 | chr2:179431337;179431336;179431335 |
| N2A | 23940 | 72043;72044;72045 | chr2:178566610;178566609;178566608 | chr2:179431337;179431336;179431335 |
| N2B | 17443 | 52552;52553;52554 | chr2:178566610;178566609;178566608 | chr2:179431337;179431336;179431335 |
| Novex-1 | 17568 | 52927;52928;52929 | chr2:178566610;178566609;178566608 | chr2:179431337;179431336;179431335 |
| Novex-2 | 17635 | 53128;53129;53130 | chr2:178566610;178566609;178566608 | chr2:179431337;179431336;179431335 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs765149776  |
-1.41 | 1.0 | D | 0.837 | 0.854 | 0.900464351087 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| W/C | rs765149776 |
-1.41 | 1.0 | D | 0.837 | 0.854 | 0.900464351087 | gnomAD-4.0.0 | 1.59441E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85894E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9898 | likely_pathogenic | 0.9892 | pathogenic | -3.33 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/C | 0.9959 | likely_pathogenic | 0.9947 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.692082324 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.6 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -3.484 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/F | 0.6415 | likely_pathogenic | 0.6353 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/G | 0.9765 | likely_pathogenic | 0.9752 | pathogenic | -3.575 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.692082324 | None | None | N |
| W/H | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -2.525 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/I | 0.9816 | likely_pathogenic | 0.9805 | pathogenic | -2.386 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.579 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/L | 0.9522 | likely_pathogenic | 0.9522 | pathogenic | -2.386 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.675628995 | None | None | N |
| W/M | 0.9892 | likely_pathogenic | 0.989 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/N | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.26 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/P | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -2.731 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.116 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/R | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -2.24 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | D | 0.692082324 | None | None | N |
| W/S | 0.9896 | likely_pathogenic | 0.9899 | pathogenic | -3.436 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.692082324 | None | None | N |
| W/T | 0.9931 | likely_pathogenic | 0.9932 | pathogenic | -3.244 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/V | 0.9791 | likely_pathogenic | 0.9774 | pathogenic | -2.731 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/Y | 0.9497 | likely_pathogenic | 0.9438 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.835 | 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.