Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7534 | 22825;22826;22827 | chr2:178722063;178722062;178722061 | chr2:179586790;179586789;179586788 |
| N2AB | 7217 | 21874;21875;21876 | chr2:178722063;178722062;178722061 | chr2:179586790;179586789;179586788 |
| N2A | 6290 | 19093;19094;19095 | chr2:178722063;178722062;178722061 | chr2:179586790;179586789;179586788 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 1.0 | D | 0.853 | 0.731 | 0.880266280062 | gnomAD-4.0.0 | 6.84951E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00127E-07 | 0 | 0 |
| F/Y | rs551521928  |
-0.965 | 0.996 | D | 0.61 | 0.629 | 0.695696944214 | gnomAD-2.1.1 | 8.49E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.9495E-04 | None | 0 | 0 | 0 |
| F/Y | rs551521928 |
-0.965 | 0.996 | D | 0.61 | 0.629 | 0.695696944214 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.20347E-04 | 0 |
| F/Y | rs551521928 |
-0.965 | 0.996 | D | 0.61 | 0.629 | 0.695696944214 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| F/Y | rs551521928 |
-0.965 | 0.996 | D | 0.61 | 0.629 | 0.695696944214 | gnomAD-4.0.0 | 2.29491E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.08001E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.989 | likely_pathogenic | 0.9944 | pathogenic | -2.553 | Highly Destabilizing | 0.998 | D | 0.784 | deleterious | None | None | None | None | N |
| F/C | 0.9787 | likely_pathogenic | 0.9886 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.621700791 | None | None | N |
| F/D | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -3.548 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/E | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -3.307 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/G | 0.9964 | likely_pathogenic | 0.9979 | pathogenic | -3.005 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/H | 0.9952 | likely_pathogenic | 0.997 | pathogenic | -2.106 | Highly Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| F/I | 0.6636 | likely_pathogenic | 0.7776 | pathogenic | -1.052 | Destabilizing | 0.978 | D | 0.657 | neutral | N | 0.519485319 | None | None | N |
| F/K | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/L | 0.8855 | likely_pathogenic | 0.9352 | pathogenic | -1.052 | Destabilizing | 0.103 | N | 0.301 | neutral | N | 0.433316624 | None | None | N |
| F/M | 0.8046 | likely_pathogenic | 0.8884 | pathogenic | -0.868 | Destabilizing | 0.974 | D | 0.657 | neutral | None | None | None | None | N |
| F/N | 0.9982 | likely_pathogenic | 0.999 | pathogenic | -2.782 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| F/Q | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -2.581 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/R | 0.9973 | likely_pathogenic | 0.9982 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/S | 0.9947 | likely_pathogenic | 0.9972 | pathogenic | -3.188 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.621700791 | None | None | N |
| F/T | 0.9903 | likely_pathogenic | 0.9953 | pathogenic | -2.822 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/V | 0.7752 | likely_pathogenic | 0.8544 | pathogenic | -1.569 | Destabilizing | 0.969 | D | 0.723 | prob.delet. | N | 0.509700792 | None | None | N |
| F/W | 0.9237 | likely_pathogenic | 0.9454 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| F/Y | 0.7759 | likely_pathogenic | 0.7832 | pathogenic | -0.812 | Destabilizing | 0.996 | D | 0.61 | neutral | D | 0.621498986 | 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.