Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3125 | 9598;9599;9600 | chr2:178767857;178767856;178767855 | chr2:179632584;179632583;179632582 |
| N2AB | 3125 | 9598;9599;9600 | chr2:178767857;178767856;178767855 | chr2:179632584;179632583;179632582 |
| N2A | 3125 | 9598;9599;9600 | chr2:178767857;178767856;178767855 | chr2:179632584;179632583;179632582 |
| N2B | 3079 | 9460;9461;9462 | chr2:178767857;178767856;178767855 | chr2:179632584;179632583;179632582 |
| Novex-1 | 3079 | 9460;9461;9462 | chr2:178767857;178767856;178767855 | chr2:179632584;179632583;179632582 |
| Novex-2 | 3079 | 9460;9461;9462 | chr2:178767857;178767856;178767855 | chr2:179632584;179632583;179632582 |
| Novex-3 | 3125 | 9598;9599;9600 | chr2:178767857;178767856;178767855 | chr2:179632584;179632583;179632582 |
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/A | None | None | 1.0 | N | 0.737 | 0.498 | 0.112648838833 | gnomAD-4.0.0 | 1.59053E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-06 | 0 | 0 |
| G/E | None | None | 1.0 | D | 0.826 | 0.598 | 0.293147016451 | gnomAD-4.0.0 | 6.36211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.10963E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.821 | 0.59 | 0.42828666871 | gnomAD-4.0.0 | 1.36816E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82614E-05 | 0 | None | 0 | 0 | 8.99294E-07 | 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 | 0.6739 | likely_pathogenic | 0.6171 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.4216387 | None | None | N |
| G/C | 0.9445 | likely_pathogenic | 0.946 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/D | 0.9728 | likely_pathogenic | 0.9729 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/E | 0.9824 | likely_pathogenic | 0.9824 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.626654813 | None | None | N |
| G/F | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/H | 0.9963 | likely_pathogenic | 0.9965 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/I | 0.997 | likely_pathogenic | 0.9972 | pathogenic | 0.641 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/K | 0.994 | likely_pathogenic | 0.9948 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/L | 0.9948 | likely_pathogenic | 0.9946 | pathogenic | 0.641 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/M | 0.996 | likely_pathogenic | 0.9959 | pathogenic | 0.549 | Stabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/N | 0.9856 | likely_pathogenic | 0.9867 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | 0.389 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Q | 0.984 | likely_pathogenic | 0.9849 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/R | 0.9803 | likely_pathogenic | 0.9813 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.595630347 | None | None | N |
| G/S | 0.6866 | likely_pathogenic | 0.6812 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/T | 0.9721 | likely_pathogenic | 0.9735 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/V | 0.9875 | likely_pathogenic | 0.9882 | pathogenic | 0.389 | Stabilizing | 1.0 | D | 0.807 | deleterious | D | 0.628676952 | None | None | N |
| G/W | 0.996 | likely_pathogenic | 0.9965 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.597551579 | None | None | N |
| G/Y | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.782 | 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.