Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25483 | 76672;76673;76674 | chr2:178569685;178569684;178569683 | chr2:179434412;179434411;179434410 |
| N2AB | 23842 | 71749;71750;71751 | chr2:178569685;178569684;178569683 | chr2:179434412;179434411;179434410 |
| N2A | 22915 | 68968;68969;68970 | chr2:178569685;178569684;178569683 | chr2:179434412;179434411;179434410 |
| N2B | 16418 | 49477;49478;49479 | chr2:178569685;178569684;178569683 | chr2:179434412;179434411;179434410 |
| Novex-1 | 16543 | 49852;49853;49854 | chr2:178569685;178569684;178569683 | chr2:179434412;179434411;179434410 |
| Novex-2 | 16610 | 50053;50054;50055 | chr2:178569685;178569684;178569683 | chr2:179434412;179434411;179434410 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | None | None | 1.0 | D | 0.711 | 0.69 | 0.677256655742 | gnomAD-4.0.0 | 3.18723E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86821E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8573 | likely_pathogenic | 0.8914 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/D | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -2.993 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.566017204 | None | None | N |
| A/E | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/F | 0.9928 | likely_pathogenic | 0.9922 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/G | 0.4791 | ambiguous | 0.5181 | ambiguous | -2.21 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.534528727 | None | None | N |
| A/H | 0.9974 | likely_pathogenic | 0.997 | pathogenic | -2.237 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/I | 0.9772 | likely_pathogenic | 0.9846 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/K | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/L | 0.9386 | likely_pathogenic | 0.948 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/M | 0.9723 | likely_pathogenic | 0.9762 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/N | 0.9915 | likely_pathogenic | 0.992 | pathogenic | -1.998 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/P | 0.9482 | likely_pathogenic | 0.9675 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.524693359 | None | None | N |
| A/Q | 0.9929 | likely_pathogenic | 0.9919 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/R | 0.9957 | likely_pathogenic | 0.9948 | pathogenic | -1.608 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/S | 0.3102 | likely_benign | 0.3515 | ambiguous | -2.36 | Highly Destabilizing | 1.0 | D | 0.63 | neutral | N | 0.50677646 | None | None | N |
| A/T | 0.8092 | likely_pathogenic | 0.8556 | pathogenic | -2.016 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.564749756 | None | None | N |
| A/V | 0.8781 | likely_pathogenic | 0.9116 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.546556596 | None | None | N |
| A/W | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/Y | 0.9973 | likely_pathogenic | 0.9968 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.859 | 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.