Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31092 | 93499;93500;93501 | chr2:178548352;178548351;178548350 | chr2:179413079;179413078;179413077 |
| N2AB | 29451 | 88576;88577;88578 | chr2:178548352;178548351;178548350 | chr2:179413079;179413078;179413077 |
| N2A | 28524 | 85795;85796;85797 | chr2:178548352;178548351;178548350 | chr2:179413079;179413078;179413077 |
| N2B | 22027 | 66304;66305;66306 | chr2:178548352;178548351;178548350 | chr2:179413079;179413078;179413077 |
| Novex-1 | 22152 | 66679;66680;66681 | chr2:178548352;178548351;178548350 | chr2:179413079;179413078;179413077 |
| Novex-2 | 22219 | 66880;66881;66882 | chr2:178548352;178548351;178548350 | chr2:179413079;179413078;179413077 |
| 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/T | None | None | 0.998 | D | 0.723 | 0.629 | 0.56380075071 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85802E-06 | 0 | 0 |
| A/V | rs1458806643  |
-0.557 | 0.999 | D | 0.723 | 0.663 | 0.742516417956 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/V | rs1458806643 |
-0.557 | 0.999 | D | 0.723 | 0.663 | 0.742516417956 | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-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 | 0.8507 | likely_pathogenic | 0.88 | pathogenic | -1.961 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/D | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -3.087 | Highly Destabilizing | 0.702 | D | 0.623 | neutral | None | None | None | None | N |
| A/E | 0.9962 | likely_pathogenic | 0.9951 | pathogenic | -2.876 | Highly Destabilizing | 0.992 | D | 0.768 | deleterious | D | 0.579549102 | None | None | N |
| A/F | 0.9921 | likely_pathogenic | 0.9929 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/G | 0.258 | likely_benign | 0.2515 | benign | -2.155 | Highly Destabilizing | 0.998 | D | 0.603 | neutral | N | 0.509903559 | None | None | N |
| A/H | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -2.065 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/I | 0.9766 | likely_pathogenic | 0.9786 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -1.537 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/L | 0.9342 | likely_pathogenic | 0.9282 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/M | 0.9629 | likely_pathogenic | 0.967 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/N | 0.9902 | likely_pathogenic | 0.9901 | pathogenic | -1.989 | Destabilizing | 0.999 | D | 0.856 | deleterious | None | None | None | None | N |
| A/P | 0.6393 | likely_pathogenic | 0.6897 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.52483149 | None | None | N |
| A/Q | 0.9922 | likely_pathogenic | 0.991 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/R | 0.9958 | likely_pathogenic | 0.9938 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/S | 0.3668 | ambiguous | 0.3777 | ambiguous | -2.329 | Highly Destabilizing | 0.996 | D | 0.591 | neutral | D | 0.523511136 | None | None | N |
| A/T | 0.7999 | likely_pathogenic | 0.8029 | pathogenic | -2.011 | Highly Destabilizing | 0.998 | D | 0.723 | prob.delet. | D | 0.552869564 | None | None | N |
| A/V | 0.8632 | likely_pathogenic | 0.868 | pathogenic | -0.931 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | D | 0.559416931 | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/Y | 0.9971 | likely_pathogenic | 0.9972 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.895 | 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.