Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 40 | 343;344;345 | chr2:178802315;178802314;178802313 | chr2:179667042;179667041;179667040 |
| N2AB | 40 | 343;344;345 | chr2:178802315;178802314;178802313 | chr2:179667042;179667041;179667040 |
| N2A | 40 | 343;344;345 | chr2:178802315;178802314;178802313 | chr2:179667042;179667041;179667040 |
| N2B | 40 | 343;344;345 | chr2:178802315;178802314;178802313 | chr2:179667042;179667041;179667040 |
| Novex-1 | 40 | 343;344;345 | chr2:178802315;178802314;178802313 | chr2:179667042;179667041;179667040 |
| Novex-2 | 40 | 343;344;345 | chr2:178802315;178802314;178802313 | chr2:179667042;179667041;179667040 |
| Novex-3 | 40 | 343;344;345 | chr2:178802315;178802314;178802313 | chr2:179667042;179667041;179667040 |
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/V | None | None | 0.95 | N | 0.524 | 0.368 | 0.783852337514 | gnomAD-4.0.0 | 1.59061E-06 | None | None | None | -0.887(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85657E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.8335 | likely_pathogenic | 0.8261 | pathogenic | -2.226 | Highly Destabilizing | 0.988 | D | 0.585 | neutral | None | None | None | -0.593(TCAP) | N |
| F/C | 0.7895 | likely_pathogenic | 0.7516 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.598381332 | None | -1.069(TCAP) | N |
| F/D | 0.9462 | likely_pathogenic | 0.9476 | pathogenic | -0.92 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | -0.668(TCAP) | N |
| F/E | 0.8734 | likely_pathogenic | 0.8794 | pathogenic | -0.808 | Destabilizing | 0.994 | D | 0.707 | prob.neutral | None | None | None | -0.828(TCAP) | N |
| F/G | 0.926 | likely_pathogenic | 0.9214 | pathogenic | -2.572 | Highly Destabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | -0.462(TCAP) | N |
| F/H | 0.6697 | likely_pathogenic | 0.6621 | pathogenic | -0.833 | Destabilizing | 0.989 | D | 0.662 | neutral | None | None | None | -0.36(TCAP) | N |
| F/I | 0.3927 | ambiguous | 0.387 | ambiguous | -1.176 | Destabilizing | 0.989 | D | 0.567 | neutral | N | 0.438715712 | None | -1.048(TCAP) | N |
| F/K | 0.9097 | likely_pathogenic | 0.9146 | pathogenic | -1.06 | Destabilizing | 0.992 | D | 0.713 | prob.delet. | None | None | None | -1.557(TCAP) | N |
| F/L | 0.8812 | likely_pathogenic | 0.8757 | pathogenic | -1.176 | Destabilizing | 0.93 | D | 0.482 | neutral | N | 0.423549925 | None | -1.048(TCAP) | N |
| F/M | 0.6705 | likely_pathogenic | 0.6615 | pathogenic | -0.94 | Destabilizing | 0.996 | D | 0.595 | neutral | None | None | None | -0.909(TCAP) | N |
| F/N | 0.8013 | likely_pathogenic | 0.8047 | pathogenic | -1.113 | Destabilizing | 0.998 | D | 0.736 | prob.delet. | None | None | None | -1.24(TCAP) | N |
| F/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.522 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | -0.887(TCAP) | N |
| F/Q | 0.8111 | likely_pathogenic | 0.81 | pathogenic | -1.194 | Destabilizing | 0.994 | D | 0.735 | prob.delet. | None | None | None | -1.298(TCAP) | N |
| F/R | 0.8389 | likely_pathogenic | 0.8485 | pathogenic | -0.462 | Destabilizing | 0.996 | D | 0.735 | prob.delet. | None | None | None | -1.668(TCAP) | N |
| F/S | 0.6604 | likely_pathogenic | 0.6568 | pathogenic | -1.976 | Destabilizing | 0.996 | D | 0.663 | neutral | N | 0.455376226 | None | -0.904(TCAP) | N |
| F/T | 0.7486 | likely_pathogenic | 0.7573 | pathogenic | -1.775 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | None | -1.082(TCAP) | N |
| F/V | 0.4403 | ambiguous | 0.4377 | ambiguous | -1.522 | Destabilizing | 0.95 | D | 0.524 | neutral | N | 0.448114177 | None | -0.887(TCAP) | N |
| F/W | 0.6358 | likely_pathogenic | 0.6275 | pathogenic | -0.188 | Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | -1.199(TCAP) | N |
| F/Y | 0.2233 | likely_benign | 0.2215 | benign | -0.405 | Destabilizing | 0.015 | N | 0.245 | neutral | N | 0.422683466 | None | -1.069(TCAP) | 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.