Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15734 | 47425;47426;47427 | chr2:178618258;178618257;178618256 | chr2:179482985;179482984;179482983 |
| N2AB | 14093 | 42502;42503;42504 | chr2:178618258;178618257;178618256 | chr2:179482985;179482984;179482983 |
| N2A | 13166 | 39721;39722;39723 | chr2:178618258;178618257;178618256 | chr2:179482985;179482984;179482983 |
| N2B | 6669 | 20230;20231;20232 | chr2:178618258;178618257;178618256 | chr2:179482985;179482984;179482983 |
| Novex-1 | 6794 | 20605;20606;20607 | chr2:178618258;178618257;178618256 | chr2:179482985;179482984;179482983 |
| Novex-2 | 6861 | 20806;20807;20808 | chr2:178618258;178618257;178618256 | chr2:179482985;179482984;179482983 |
| 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/S | rs749729941  |
None | 1.0 | D | 0.612 | 0.533 | 0.493561785454 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs749729941 |
None | 1.0 | D | 0.612 | 0.533 | 0.493561785454 | gnomAD-4.0.0 | 6.58241E-06 | None | None | None | None | N | None | 0 | 6.56599E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs749729941 |
-1.906 | 1.0 | D | 0.791 | 0.586 | 0.578941962908 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | rs749729941 |
-1.906 | 1.0 | D | 0.791 | 0.586 | 0.578941962908 | gnomAD-4.0.0 | 3.18638E-06 | None | None | None | None | N | None | 0 | 2.28822E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 0 |
| A/V | rs2057710011 |
None | 1.0 | D | 0.705 | 0.65 | 0.64476554747 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs2057710011 |
None | 1.0 | D | 0.705 | 0.65 | 0.64476554747 | gnomAD-4.0.0 | 1.24023E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6961E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8604 | likely_pathogenic | 0.8041 | pathogenic | -2.01 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/D | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -3.143 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/E | 0.9952 | likely_pathogenic | 0.9965 | pathogenic | -2.95 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.81050099 | None | None | N |
| A/F | 0.9903 | likely_pathogenic | 0.9909 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/G | 0.5297 | ambiguous | 0.4597 | ambiguous | -1.97 | Destabilizing | 1.0 | D | 0.616 | neutral | D | 0.683617091 | None | None | N |
| A/H | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/I | 0.9707 | likely_pathogenic | 0.981 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/L | 0.9161 | likely_pathogenic | 0.9354 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/M | 0.9707 | likely_pathogenic | 0.9801 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/N | 0.9945 | likely_pathogenic | 0.9943 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/P | 0.9239 | likely_pathogenic | 0.9111 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.729559158 | None | None | N |
| A/Q | 0.9888 | likely_pathogenic | 0.9908 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/R | 0.9931 | likely_pathogenic | 0.9934 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/S | 0.4195 | ambiguous | 0.4366 | ambiguous | -2.273 | Highly Destabilizing | 1.0 | D | 0.612 | neutral | D | 0.635967782 | None | None | N |
| A/T | 0.8438 | likely_pathogenic | 0.8912 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.769314782 | None | None | N |
| A/V | 0.843 | likely_pathogenic | 0.8928 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.772400193 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/Y | 0.997 | likely_pathogenic | 0.997 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.884 | 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.