Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33126 | 99601;99602;99603 | chr2:178537831;178537830;178537829 | chr2:179402558;179402557;179402556 |
| N2AB | 31485 | 94678;94679;94680 | chr2:178537831;178537830;178537829 | chr2:179402558;179402557;179402556 |
| N2A | 30558 | 91897;91898;91899 | chr2:178537831;178537830;178537829 | chr2:179402558;179402557;179402556 |
| N2B | 24061 | 72406;72407;72408 | chr2:178537831;178537830;178537829 | chr2:179402558;179402557;179402556 |
| Novex-1 | 24186 | 72781;72782;72783 | chr2:178537831;178537830;178537829 | chr2:179402558;179402557;179402556 |
| Novex-2 | 24253 | 72982;72983;72984 | chr2:178537831;178537830;178537829 | chr2:179402558;179402557;179402556 |
| 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/E | rs772933494  |
-2.313 | 1.0 | D | 0.822 | 0.721 | 0.737378431012 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/E | rs772933494 |
-2.313 | 1.0 | D | 0.822 | 0.721 | 0.737378431012 | gnomAD-4.0.0 | 1.36855E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79904E-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 | 0.8851 | likely_pathogenic | 0.8978 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.553017543 | None | None | N |
| G/C | 0.9885 | likely_pathogenic | 0.9896 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/D | 0.9972 | likely_pathogenic | 0.9972 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/E | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.638293409 | None | None | N |
| G/F | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/H | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/I | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/K | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/L | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/M | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/N | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/Q | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/R | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.641925886 | None | None | N |
| G/S | 0.9236 | likely_pathogenic | 0.9343 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/T | 0.9914 | likely_pathogenic | 0.993 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/V | 0.9954 | likely_pathogenic | 0.9951 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.6326393 | None | None | N |
| G/W | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.743 | 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.