Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27391 | 82396;82397;82398 | chr2:178563961;178563960;178563959 | chr2:179428688;179428687;179428686 |
| N2AB | 25750 | 77473;77474;77475 | chr2:178563961;178563960;178563959 | chr2:179428688;179428687;179428686 |
| N2A | 24823 | 74692;74693;74694 | chr2:178563961;178563960;178563959 | chr2:179428688;179428687;179428686 |
| N2B | 18326 | 55201;55202;55203 | chr2:178563961;178563960;178563959 | chr2:179428688;179428687;179428686 |
| Novex-1 | 18451 | 55576;55577;55578 | chr2:178563961;178563960;178563959 | chr2:179428688;179428687;179428686 |
| Novex-2 | 18518 | 55777;55778;55779 | chr2:178563961;178563960;178563959 | chr2:179428688;179428687;179428686 |
| 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 | rs778983249  |
-2.451 | 1.0 | D | 0.89 | 0.819 | 0.906596067141 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| W/R | rs778983249 |
-2.451 | 1.0 | D | 0.89 | 0.819 | 0.906596067141 | gnomAD-4.0.0 | 4.78965E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39703E-06 | 1.15939E-05 | 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 | 0.9961 | likely_pathogenic | 0.9954 | pathogenic | -3.499 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/C | 0.9964 | likely_pathogenic | 0.9966 | pathogenic | -2.313 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.679025767 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -4.098 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -4.0 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/F | 0.8258 | likely_pathogenic | 0.816 | pathogenic | -2.483 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/G | 0.9854 | likely_pathogenic | 0.9817 | pathogenic | -3.707 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.679025767 | None | None | N |
| W/H | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -2.852 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/I | 0.9933 | likely_pathogenic | 0.9928 | pathogenic | -2.668 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.288 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/L | 0.9828 | likely_pathogenic | 0.9809 | pathogenic | -2.668 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.652478634 | None | None | N |
| W/M | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -2.125 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -4.014 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.976 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.854 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.975 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.679025768 | None | None | N |
| W/S | 0.9945 | likely_pathogenic | 0.9937 | pathogenic | -4.063 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.663006406 | None | None | N |
| W/T | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -3.897 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/V | 0.9915 | likely_pathogenic | 0.9909 | pathogenic | -2.976 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/Y | 0.9597 | likely_pathogenic | 0.9616 | pathogenic | -2.426 | Highly Destabilizing | 1.0 | D | 0.847 | 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.