Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5840 | 17743;17744;17745 | chr2:178731147;178731146;178731145 | chr2:179595874;179595873;179595872 |
| N2AB | 5523 | 16792;16793;16794 | chr2:178731147;178731146;178731145 | chr2:179595874;179595873;179595872 |
| N2A | 4596 | 14011;14012;14013 | chr2:178731147;178731146;178731145 | chr2:179595874;179595873;179595872 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs769399979  |
-1.321 | 1.0 | N | 0.877 | 0.547 | 0.555712064712 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.01058E-04 | None | 0 | None | 0 | 0 | 0 |
| A/D | rs769399979 |
-1.321 | 1.0 | N | 0.877 | 0.547 | 0.555712064712 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs769399979 |
-1.321 | 1.0 | N | 0.877 | 0.547 | 0.555712064712 | gnomAD-4.0.0 | 6.19761E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.00606E-04 | None | 0 | 0 | 0 | 0 | 1.60118E-05 |
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 | 0.6794 | likely_pathogenic | 0.7285 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| A/D | 0.9859 | likely_pathogenic | 0.9953 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.498020372 | None | None | N |
| A/E | 0.9717 | likely_pathogenic | 0.9898 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/F | 0.8409 | likely_pathogenic | 0.8964 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/G | 0.3795 | ambiguous | 0.4787 | ambiguous | -1.158 | Destabilizing | 1.0 | D | 0.594 | neutral | N | 0.474800782 | None | None | N |
| A/H | 0.9846 | likely_pathogenic | 0.9922 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/I | 0.5524 | ambiguous | 0.7031 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/K | 0.9903 | likely_pathogenic | 0.9966 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/L | 0.5532 | ambiguous | 0.6781 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/M | 0.6321 | likely_pathogenic | 0.7723 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/N | 0.9681 | likely_pathogenic | 0.9877 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/P | 0.9751 | likely_pathogenic | 0.9883 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.497766882 | None | None | N |
| A/Q | 0.9586 | likely_pathogenic | 0.9797 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/R | 0.978 | likely_pathogenic | 0.9887 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/S | 0.3246 | likely_benign | 0.429 | ambiguous | -1.449 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.46558407 | None | None | N |
| A/T | 0.292 | likely_benign | 0.4768 | ambiguous | -1.304 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.508544236 | None | None | N |
| A/V | 0.2419 | likely_benign | 0.3511 | ambiguous | -0.286 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.436022416 | None | None | N |
| A/W | 0.9922 | likely_pathogenic | 0.9964 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/Y | 0.962 | likely_pathogenic | 0.979 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.907 | 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.