Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8226 | 24901;24902;24903 | chr2:178718430;178718429;178718428 | chr2:179583157;179583156;179583155 |
| N2AB | 7909 | 23950;23951;23952 | chr2:178718430;178718429;178718428 | chr2:179583157;179583156;179583155 |
| N2A | 6982 | 21169;21170;21171 | chr2:178718430;178718429;178718428 | chr2:179583157;179583156;179583155 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | None | N | 0.336 | 0.048 | 0.0666544352282 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85855E-06 | 0 | 0 |
| T/I | rs1391244402  |
0.675 | 0.055 | N | 0.718 | 0.096 | 0.128392430309 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65893E-04 |
| T/I | rs1391244402 |
0.675 | 0.055 | N | 0.718 | 0.096 | 0.128392430309 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 3.93133E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1391244402 |
0.675 | 0.055 | N | 0.718 | 0.096 | 0.128392430309 | gnomAD-4.0.0 | 1.15313E-05 | None | None | None | None | N | None | 0 | 1.52563E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | None | -1.469 | 0.029 | N | 0.562 | 0.074 | 0.119812018005 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/N | None | -1.469 | 0.029 | N | 0.562 | 0.074 | 0.119812018005 | gnomAD-4.0.0 | 6.36551E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.73115E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.058 | likely_benign | 0.0572 | benign | -1.159 | Destabilizing | None | N | 0.336 | neutral | N | 0.367087979 | None | None | N |
| T/C | 0.2431 | likely_benign | 0.2417 | benign | -0.772 | Destabilizing | None | N | 0.533 | neutral | None | None | None | None | N |
| T/D | 0.8302 | likely_pathogenic | 0.796 | pathogenic | -2.034 | Highly Destabilizing | None | N | 0.533 | neutral | None | None | None | None | N |
| T/E | 0.8123 | likely_pathogenic | 0.7886 | pathogenic | -1.735 | Destabilizing | 0.016 | N | 0.668 | neutral | None | None | None | None | N |
| T/F | 0.5 | ambiguous | 0.5216 | ambiguous | -0.635 | Destabilizing | 0.356 | N | 0.794 | deleterious | None | None | None | None | N |
| T/G | 0.2216 | likely_benign | 0.1912 | benign | -1.613 | Destabilizing | None | N | 0.573 | neutral | None | None | None | None | N |
| T/H | 0.5679 | likely_pathogenic | 0.5686 | pathogenic | -1.637 | Destabilizing | 0.356 | N | 0.758 | deleterious | None | None | None | None | N |
| T/I | 0.2974 | likely_benign | 0.3113 | benign | 0.081 | Stabilizing | 0.055 | N | 0.718 | prob.delet. | N | 0.436718636 | None | None | N |
| T/K | 0.768 | likely_pathogenic | 0.7446 | pathogenic | -0.176 | Destabilizing | 0.038 | N | 0.665 | neutral | None | None | None | None | N |
| T/L | 0.1878 | likely_benign | 0.1923 | benign | 0.081 | Stabilizing | 0.016 | N | 0.665 | neutral | None | None | None | None | N |
| T/M | 0.1426 | likely_benign | 0.1435 | benign | -0.246 | Destabilizing | 0.628 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/N | 0.3262 | likely_benign | 0.332 | benign | -1.224 | Destabilizing | 0.029 | N | 0.562 | neutral | N | 0.434353121 | None | None | N |
| T/P | 0.7656 | likely_pathogenic | 0.7156 | pathogenic | -0.306 | Destabilizing | 0.055 | N | 0.722 | prob.delet. | N | 0.45599783 | None | None | N |
| T/Q | 0.6331 | likely_pathogenic | 0.6085 | pathogenic | -0.716 | Destabilizing | 0.072 | N | 0.747 | deleterious | None | None | None | None | N |
| T/R | 0.6416 | likely_pathogenic | 0.6348 | pathogenic | -0.757 | Destabilizing | 0.072 | N | 0.742 | deleterious | None | None | None | None | N |
| T/S | 0.1089 | likely_benign | 0.0988 | benign | -1.384 | Destabilizing | None | N | 0.314 | neutral | N | 0.350406373 | None | None | N |
| T/V | 0.1638 | likely_benign | 0.1704 | benign | -0.306 | Destabilizing | 0.016 | N | 0.573 | neutral | None | None | None | None | N |
| T/W | 0.8801 | likely_pathogenic | 0.8687 | pathogenic | -1.01 | Destabilizing | 0.864 | D | 0.736 | prob.delet. | None | None | None | None | N |
| T/Y | 0.5399 | ambiguous | 0.573 | pathogenic | -0.56 | Destabilizing | 0.356 | N | 0.794 | 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.