Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17181 | 51766;51767;51768 | chr2:178609882;178609881;178609880 | chr2:179474609;179474608;179474607 |
| N2AB | 15540 | 46843;46844;46845 | chr2:178609882;178609881;178609880 | chr2:179474609;179474608;179474607 |
| N2A | 14613 | 44062;44063;44064 | chr2:178609882;178609881;178609880 | chr2:179474609;179474608;179474607 |
| N2B | 8116 | 24571;24572;24573 | chr2:178609882;178609881;178609880 | chr2:179474609;179474608;179474607 |
| Novex-1 | 8241 | 24946;24947;24948 | chr2:178609882;178609881;178609880 | chr2:179474609;179474608;179474607 |
| Novex-2 | 8308 | 25147;25148;25149 | chr2:178609882;178609881;178609880 | chr2:179474609;179474608;179474607 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.835 | 0.534 | 0.483153943251 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8917 | likely_pathogenic | 0.8792 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.586 | neutral | N | 0.49827904 | None | None | N |
| G/C | 0.9752 | likely_pathogenic | 0.9709 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.530501532 | None | None | N |
| G/D | 0.9945 | likely_pathogenic | 0.9931 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.503634637 | None | None | N |
| G/E | 0.9962 | likely_pathogenic | 0.9956 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/F | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/H | 0.9961 | likely_pathogenic | 0.9944 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/I | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | 0.256 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/K | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/L | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | 0.256 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/M | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/N | 0.9922 | likely_pathogenic | 0.9871 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.011 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/Q | 0.9963 | likely_pathogenic | 0.9957 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/R | 0.9953 | likely_pathogenic | 0.9947 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.494137983 | None | None | N |
| G/S | 0.9212 | likely_pathogenic | 0.9071 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.654 | neutral | N | 0.479058695 | None | None | N |
| G/T | 0.9916 | likely_pathogenic | 0.9915 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/V | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -0.011 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.547338339 | None | None | N |
| G/W | 0.9956 | likely_pathogenic | 0.9947 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Y | 0.9944 | likely_pathogenic | 0.9928 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.85 | 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.