Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27490 | 82693;82694;82695 | chr2:178563664;178563663;178563662 | chr2:179428391;179428390;179428389 |
| N2AB | 25849 | 77770;77771;77772 | chr2:178563664;178563663;178563662 | chr2:179428391;179428390;179428389 |
| N2A | 24922 | 74989;74990;74991 | chr2:178563664;178563663;178563662 | chr2:179428391;179428390;179428389 |
| N2B | 18425 | 55498;55499;55500 | chr2:178563664;178563663;178563662 | chr2:179428391;179428390;179428389 |
| Novex-1 | 18550 | 55873;55874;55875 | chr2:178563664;178563663;178563662 | chr2:179428391;179428390;179428389 |
| Novex-2 | 18617 | 56074;56075;56076 | chr2:178563664;178563663;178563662 | chr2:179428391;179428390;179428389 |
| 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/R | rs757683923  |
-2.348 | 1.0 | D | 0.913 | 0.809 | 0.943719225583 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 8.87E-06 | 0 |
| W/R | rs757683923 |
-2.348 | 1.0 | D | 0.913 | 0.809 | 0.943719225583 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| W/R | rs757683923 |
-2.348 | 1.0 | D | 0.913 | 0.809 | 0.943719225583 | gnomAD-4.0.0 | 2.73679E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87259E-05 | 0 | 8.99475E-07 | 1.15937E-05 | 1.65651E-05 |
| W/S | None | None | 1.0 | D | 0.892 | 0.734 | 0.960035691554 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85834E-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 | 0.9935 | likely_pathogenic | 0.993 | pathogenic | -3.542 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/C | 0.9968 | likely_pathogenic | 0.9969 | pathogenic | -2.047 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.677322047 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.924 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.806 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/F | 0.6065 | likely_pathogenic | 0.6223 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/G | 0.9783 | likely_pathogenic | 0.9747 | pathogenic | -3.783 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.677322047 | None | None | N |
| W/H | 0.9967 | likely_pathogenic | 0.9963 | pathogenic | -2.807 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/I | 0.9923 | likely_pathogenic | 0.9915 | pathogenic | -2.597 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.955 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/L | 0.9756 | likely_pathogenic | 0.9746 | pathogenic | -2.597 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.676111221 | None | None | N |
| W/M | 0.9937 | likely_pathogenic | 0.9938 | pathogenic | -2.012 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.686 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.945 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.515 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/R | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.677322047 | None | None | N |
| W/S | 0.9926 | likely_pathogenic | 0.9921 | pathogenic | -3.798 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.677322047 | None | None | N |
| W/T | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -3.605 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/V | 0.988 | likely_pathogenic | 0.9875 | pathogenic | -2.945 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/Y | 0.9294 | likely_pathogenic | 0.9372 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.848 | 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.