Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30352 | 91279;91280;91281 | chr2:178551846;178551845;178551844 | chr2:179416573;179416572;179416571 |
| N2AB | 28711 | 86356;86357;86358 | chr2:178551846;178551845;178551844 | chr2:179416573;179416572;179416571 |
| N2A | 27784 | 83575;83576;83577 | chr2:178551846;178551845;178551844 | chr2:179416573;179416572;179416571 |
| N2B | 21287 | 64084;64085;64086 | chr2:178551846;178551845;178551844 | chr2:179416573;179416572;179416571 |
| Novex-1 | 21412 | 64459;64460;64461 | chr2:178551846;178551845;178551844 | chr2:179416573;179416572;179416571 |
| Novex-2 | 21479 | 64660;64661;64662 | chr2:178551846;178551845;178551844 | chr2:179416573;179416572;179416571 |
| 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 | rs1415254742  |
-0.698 | 1.0 | N | 0.861 | 0.676 | 0.39724302092 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/D | rs1415254742 |
-0.698 | 1.0 | N | 0.861 | 0.676 | 0.39724302092 | gnomAD-4.0.0 | 2.05253E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79888E-06 | 0 | 1.65634E-05 |
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 | 0.8914 | likely_pathogenic | 0.9274 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.515174618 | None | None | I |
| G/C | 0.9683 | likely_pathogenic | 0.9785 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.534546321 | None | None | I |
| G/D | 0.991 | likely_pathogenic | 0.9933 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.513653681 | None | None | I |
| G/E | 0.994 | likely_pathogenic | 0.9959 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/F | 0.9969 | likely_pathogenic | 0.9977 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/H | 0.996 | likely_pathogenic | 0.9971 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/I | 0.9971 | likely_pathogenic | 0.9983 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9958 | likely_pathogenic | 0.997 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/L | 0.9957 | likely_pathogenic | 0.9969 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/M | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9885 | likely_pathogenic | 0.9904 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/Q | 0.9936 | likely_pathogenic | 0.9953 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/R | 0.9837 | likely_pathogenic | 0.9878 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.854 | deleterious | N | 0.492208518 | None | None | I |
| G/S | 0.8485 | likely_pathogenic | 0.8871 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.517034269 | None | None | I |
| G/T | 0.9873 | likely_pathogenic | 0.9916 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/V | 0.993 | likely_pathogenic | 0.9958 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.515935087 | None | None | I |
| G/W | 0.9929 | likely_pathogenic | 0.9951 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/Y | 0.9948 | likely_pathogenic | 0.9965 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
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.