Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23226 | 69901;69902;69903 | chr2:178576568;178576567;178576566 | chr2:179441295;179441294;179441293 |
| N2AB | 21585 | 64978;64979;64980 | chr2:178576568;178576567;178576566 | chr2:179441295;179441294;179441293 |
| N2A | 20658 | 62197;62198;62199 | chr2:178576568;178576567;178576566 | chr2:179441295;179441294;179441293 |
| N2B | 14161 | 42706;42707;42708 | chr2:178576568;178576567;178576566 | chr2:179441295;179441294;179441293 |
| Novex-1 | 14286 | 43081;43082;43083 | chr2:178576568;178576567;178576566 | chr2:179441295;179441294;179441293 |
| Novex-2 | 14353 | 43282;43283;43284 | chr2:178576568;178576567;178576566 | chr2:179441295;179441294;179441293 |
| 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/G | rs72646885  |
-1.267 | 0.999 | N | 0.887 | 0.566 | None | gnomAD-2.1.1 | 7.21678E-03 | None | None | None | None | N | None | 9.50963E-04 | 4.36038E-03 | None | 3.00155E-02 | 0 | None | 1.13138E-02 | None | 1.99808E-03 | 8.30656E-03 | 1.05426E-02 |
| S/G | rs72646885 |
-1.267 | 0.999 | N | 0.887 | 0.566 | None | gnomAD-3.1.2 | 5.76458E-03 | None | None | None | None | N | None | 1.32639E-03 | 4.45143E-03 | 0 | 3.31221E-02 | 0 | None | 2.07117E-03 | 2.8481E-02 | 8.02988E-03 | 8.70647E-03 | 9.56938E-03 |
| S/G | rs72646885 |
-1.267 | 0.999 | N | 0.887 | 0.566 | None | 1000 genomes | 2.99521E-03 | None | None | None | None | N | None | 0 | 8.6E-03 | None | None | 0 | 6E-03 | None | None | None | 3.1E-03 | None |
| S/G | rs72646885 |
-1.267 | 0.999 | N | 0.887 | 0.566 | None | gnomAD-4.0.0 | 7.02526E-03 | None | None | None | None | N | None | 1.41258E-03 | 4.7327E-03 | None | 3.16238E-02 | 0 | None | 2.73378E-03 | 1.76568E-02 | 6.87666E-03 | 1.14003E-02 | 9.25274E-03 |
| S/N | None | None | 0.999 | D | 0.897 | 0.509 | 0.440182696023 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.457 | ambiguous | 0.4693 | ambiguous | -0.669 | Destabilizing | 0.998 | D | 0.851 | deleterious | None | None | None | None | N |
| S/C | 0.5859 | likely_pathogenic | 0.5734 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.567880536 | None | None | N |
| S/D | 0.991 | likely_pathogenic | 0.9936 | pathogenic | -1.491 | Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | None | N |
| S/E | 0.9947 | likely_pathogenic | 0.9955 | pathogenic | -1.417 | Destabilizing | 0.999 | D | 0.895 | deleterious | None | None | None | None | N |
| S/F | 0.9925 | likely_pathogenic | 0.9937 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| S/G | 0.4219 | ambiguous | 0.3682 | ambiguous | -0.977 | Destabilizing | 0.999 | D | 0.887 | deleterious | N | 0.521757298 | None | None | N |
| S/H | 0.99 | likely_pathogenic | 0.9917 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| S/I | 0.9834 | likely_pathogenic | 0.9859 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.912 | deleterious | D | 0.567373557 | None | None | N |
| S/K | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.954 | Destabilizing | 0.999 | D | 0.892 | deleterious | None | None | None | None | N |
| S/L | 0.8863 | likely_pathogenic | 0.9043 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| S/M | 0.9609 | likely_pathogenic | 0.967 | pathogenic | 0.167 | Stabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| S/N | 0.9677 | likely_pathogenic | 0.9742 | pathogenic | -1.236 | Destabilizing | 0.999 | D | 0.897 | deleterious | D | 0.567120067 | None | None | N |
| S/P | 0.9885 | likely_pathogenic | 0.9885 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| S/Q | 0.9926 | likely_pathogenic | 0.9932 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| S/R | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.543482404 | None | None | N |
| S/T | 0.5456 | ambiguous | 0.5554 | ambiguous | -1.002 | Destabilizing | 0.999 | D | 0.897 | deleterious | D | 0.530351672 | None | None | N |
| S/V | 0.9478 | likely_pathogenic | 0.9553 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| S/W | 0.9911 | likely_pathogenic | 0.9935 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| S/Y | 0.9897 | likely_pathogenic | 0.9915 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.917 | 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.