Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29143 | 87652;87653;87654 | chr2:178557927;178557926;178557925 | chr2:179422654;179422653;179422652 |
| N2AB | 27502 | 82729;82730;82731 | chr2:178557927;178557926;178557925 | chr2:179422654;179422653;179422652 |
| N2A | 26575 | 79948;79949;79950 | chr2:178557927;178557926;178557925 | chr2:179422654;179422653;179422652 |
| N2B | 20078 | 60457;60458;60459 | chr2:178557927;178557926;178557925 | chr2:179422654;179422653;179422652 |
| Novex-1 | 20203 | 60832;60833;60834 | chr2:178557927;178557926;178557925 | chr2:179422654;179422653;179422652 |
| Novex-2 | 20270 | 61033;61034;61035 | chr2:178557927;178557926;178557925 | chr2:179422654;179422653;179422652 |
| 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/A | None | None | 1.0 | N | 0.629 | 0.362 | 0.247872288689 | gnomAD-4.0.0 | 6.84493E-07 | None | None | None | None | N | None | 2.98686E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.679 | 0.413 | 0.257786959452 | gnomAD-4.0.0 | 1.59272E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| G/V | rs368010212  |
0.211 | 1.0 | N | 0.773 | 0.566 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| G/V | rs368010212 |
0.211 | 1.0 | N | 0.773 | 0.566 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 4.77555E-04 |
| G/V | rs368010212 |
0.211 | 1.0 | N | 0.773 | 0.566 | None | gnomAD-4.0.0 | 1.17777E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.30142E-04 | 1.35611E-05 | 0 | 1.60061E-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 | 0.3316 | likely_benign | 0.4683 | ambiguous | -0.288 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.472295434 | None | None | N |
| G/C | 0.6226 | likely_pathogenic | 0.7787 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.507793288 | None | None | N |
| G/D | 0.8311 | likely_pathogenic | 0.893 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.457173371 | None | None | N |
| G/E | 0.8027 | likely_pathogenic | 0.8842 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/F | 0.8911 | likely_pathogenic | 0.9381 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/H | 0.9178 | likely_pathogenic | 0.9559 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/I | 0.8197 | likely_pathogenic | 0.8997 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/K | 0.9007 | likely_pathogenic | 0.9492 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/L | 0.8245 | likely_pathogenic | 0.9057 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/M | 0.8895 | likely_pathogenic | 0.9483 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| G/N | 0.838 | likely_pathogenic | 0.8989 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/P | 0.8072 | likely_pathogenic | 0.8865 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/Q | 0.8571 | likely_pathogenic | 0.9232 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/R | 0.8364 | likely_pathogenic | 0.9094 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.474596518 | None | None | N |
| G/S | 0.3144 | likely_benign | 0.4347 | ambiguous | -0.736 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.458694308 | None | None | N |
| G/T | 0.6576 | likely_pathogenic | 0.7812 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/V | 0.7197 | likely_pathogenic | 0.8335 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.490196012 | None | None | N |
| G/W | 0.8668 | likely_pathogenic | 0.9194 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/Y | 0.854 | likely_pathogenic | 0.9174 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | 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.