Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8152 | 24679;24680;24681 | chr2:178718746;178718745;178718744 | chr2:179583473;179583472;179583471 |
| N2AB | 7835 | 23728;23729;23730 | chr2:178718746;178718745;178718744 | chr2:179583473;179583472;179583471 |
| N2A | 6908 | 20947;20948;20949 | chr2:178718746;178718745;178718744 | chr2:179583473;179583472;179583471 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs397517507  |
-1.5 | 0.901 | D | 0.825 | 0.504 | 0.856545679194 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/F | rs397517507 |
-1.5 | 0.901 | D | 0.825 | 0.504 | 0.856545679194 | gnomAD-4.0.0 | 2.73688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73491E-04 | 1.79898E-06 | 0 | 1.65667E-05 |
| V/I | rs397517507 |
-0.445 | 0.018 | N | 0.25 | 0.263 | 0.424313518543 | gnomAD-2.1.1 | 5.36E-05 | None | None | None | None | N | None | 4.13E-05 | 5.66E-05 | None | 0 | 2.56279E-04 | None | 9.81E-05 | None | 0 | 1.56E-05 | 2.80899E-04 |
| V/I | rs397517507 |
-0.445 | 0.018 | N | 0.25 | 0.263 | 0.424313518543 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 7.24E-05 | 6.55E-05 | 0 | 0 | 3.8625E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs397517507 |
-0.445 | 0.018 | N | 0.25 | 0.263 | 0.424313518543 | gnomAD-4.0.0 | 4.52402E-05 | None | None | None | None | N | None | 4.00588E-05 | 5.00133E-05 | None | 0 | 7.35491E-04 | None | 0 | 0 | 2.20387E-05 | 6.58805E-05 | 3.20246E-05 |
| V/L | None | None | 0.349 | N | 0.563 | 0.412 | 0.418221603839 | gnomAD-4.0.0 | 6.84221E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99491E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5175 | ambiguous | 0.5074 | ambiguous | -2.356 | Highly Destabilizing | 0.003 | N | 0.375 | neutral | N | 0.423939419 | None | None | N |
| V/C | 0.9555 | likely_pathogenic | 0.9568 | pathogenic | -1.934 | Destabilizing | 0.973 | D | 0.794 | deleterious | None | None | None | None | N |
| V/D | 0.9956 | likely_pathogenic | 0.9947 | pathogenic | -2.994 | Highly Destabilizing | 0.879 | D | 0.856 | deleterious | D | 0.543308274 | None | None | N |
| V/E | 0.9846 | likely_pathogenic | 0.9832 | pathogenic | -2.727 | Highly Destabilizing | 0.826 | D | 0.828 | deleterious | None | None | None | None | N |
| V/F | 0.7075 | likely_pathogenic | 0.7043 | pathogenic | -1.315 | Destabilizing | 0.901 | D | 0.825 | deleterious | D | 0.531698479 | None | None | N |
| V/G | 0.8106 | likely_pathogenic | 0.8282 | pathogenic | -2.941 | Highly Destabilizing | 0.642 | D | 0.811 | deleterious | N | 0.508985868 | None | None | N |
| V/H | 0.9947 | likely_pathogenic | 0.9947 | pathogenic | -2.647 | Highly Destabilizing | 0.991 | D | 0.838 | deleterious | None | None | None | None | N |
| V/I | 0.1093 | likely_benign | 0.1049 | benign | -0.69 | Destabilizing | 0.018 | N | 0.25 | neutral | N | 0.519114386 | None | None | N |
| V/K | 0.992 | likely_pathogenic | 0.9917 | pathogenic | -1.901 | Destabilizing | 0.826 | D | 0.831 | deleterious | None | None | None | None | N |
| V/L | 0.4708 | ambiguous | 0.4494 | ambiguous | -0.69 | Destabilizing | 0.349 | N | 0.563 | neutral | N | 0.509858014 | None | None | N |
| V/M | 0.6083 | likely_pathogenic | 0.5898 | pathogenic | -0.887 | Destabilizing | 0.826 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/N | 0.9879 | likely_pathogenic | 0.9862 | pathogenic | -2.364 | Highly Destabilizing | 0.906 | D | 0.859 | deleterious | None | None | None | None | N |
| V/P | 0.9914 | likely_pathogenic | 0.9899 | pathogenic | -1.222 | Destabilizing | 0.906 | D | 0.834 | deleterious | None | None | None | None | N |
| V/Q | 0.9816 | likely_pathogenic | 0.9807 | pathogenic | -2.122 | Highly Destabilizing | 0.906 | D | 0.852 | deleterious | None | None | None | None | N |
| V/R | 0.9811 | likely_pathogenic | 0.9805 | pathogenic | -1.814 | Destabilizing | 0.826 | D | 0.857 | deleterious | None | None | None | None | N |
| V/S | 0.8976 | likely_pathogenic | 0.896 | pathogenic | -3.003 | Highly Destabilizing | 0.704 | D | 0.807 | deleterious | None | None | None | None | N |
| V/T | 0.8294 | likely_pathogenic | 0.8292 | pathogenic | -2.583 | Highly Destabilizing | 0.575 | D | 0.688 | prob.neutral | None | None | None | None | N |
| V/W | 0.9948 | likely_pathogenic | 0.9956 | pathogenic | -1.84 | Destabilizing | 0.991 | D | 0.817 | deleterious | None | None | None | None | N |
| V/Y | 0.9764 | likely_pathogenic | 0.9765 | pathogenic | -1.503 | Destabilizing | 0.967 | D | 0.809 | 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.