Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7581 | 22966;22967;22968 | chr2:178721922;178721921;178721920 | chr2:179586649;179586648;179586647 |
| N2AB | 7264 | 22015;22016;22017 | chr2:178721922;178721921;178721920 | chr2:179586649;179586648;179586647 |
| N2A | 6337 | 19234;19235;19236 | chr2:178721922;178721921;178721920 | chr2:179586649;179586648;179586647 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs540314973  |
-0.551 | 0.302 | D | 0.372 | 0.535 | 0.426670027402 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.29299E-04 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs540314973 |
-0.551 | 0.302 | D | 0.372 | 0.535 | 0.426670027402 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs540314973 |
-0.551 | 0.302 | D | 0.372 | 0.535 | 0.426670027402 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/E | rs540314973 |
-0.551 | 0.302 | D | 0.372 | 0.535 | 0.426670027402 | gnomAD-4.0.0 | 5.12558E-06 | None | None | None | None | N | None | 3.37621E-05 | 3.38903E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1433348204 |
-0.264 | 1.0 | D | 0.768 | 0.549 | 0.67901058461 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1433348204 |
-0.264 | 1.0 | D | 0.768 | 0.549 | 0.67901058461 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs1433348204 |
-0.264 | 1.0 | D | 0.768 | 0.549 | 0.67901058461 | gnomAD-4.0.0 | 1.23963E-06 | None | None | None | None | N | None | 0 | 1.66739E-05 | None | 0 | 0 | None | 0 | 0 | 8.47764E-07 | 0 | 0 |
| D/V | None | None | 1.0 | D | 0.897 | 0.823 | 0.921184757123 | gnomAD-4.0.0 | 1.59201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43345E-05 | 0 |
| D/Y | rs1433348204 |
1.065 | 1.0 | D | 0.903 | 0.543 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1433348204 |
1.065 | 1.0 | D | 0.903 | 0.543 | None | gnomAD-4.0.0 | 6.81795E-06 | None | None | None | None | N | None | 1.33518E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47764E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9783 | likely_pathogenic | 0.9729 | pathogenic | 0.456 | Stabilizing | 1.0 | D | 0.825 | deleterious | D | 0.64039002 | None | None | N |
| D/C | 0.9934 | likely_pathogenic | 0.9926 | pathogenic | 0.369 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| D/E | 0.9292 | likely_pathogenic | 0.9305 | pathogenic | -0.527 | Destabilizing | 0.302 | N | 0.372 | neutral | D | 0.592978429 | None | None | N |
| D/F | 0.9934 | likely_pathogenic | 0.9928 | pathogenic | 1.243 | Stabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| D/G | 0.9833 | likely_pathogenic | 0.9785 | pathogenic | 0.008 | Stabilizing | 0.999 | D | 0.766 | deleterious | D | 0.666129936 | None | None | N |
| D/H | 0.957 | likely_pathogenic | 0.9584 | pathogenic | 1.006 | Stabilizing | 1.0 | D | 0.822 | deleterious | D | 0.578573502 | None | None | N |
| D/I | 0.9928 | likely_pathogenic | 0.9906 | pathogenic | 1.655 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| D/K | 0.9927 | likely_pathogenic | 0.9918 | pathogenic | 0.652 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/L | 0.9912 | likely_pathogenic | 0.9899 | pathogenic | 1.655 | Stabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| D/M | 0.9969 | likely_pathogenic | 0.9966 | pathogenic | 1.9 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| D/N | 0.8498 | likely_pathogenic | 0.8333 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.610915828 | None | None | N |
| D/P | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | 1.285 | Stabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| D/Q | 0.989 | likely_pathogenic | 0.9891 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/R | 0.9944 | likely_pathogenic | 0.9939 | pathogenic | 0.676 | Stabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| D/S | 0.9565 | likely_pathogenic | 0.9458 | pathogenic | -0.534 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/T | 0.9913 | likely_pathogenic | 0.989 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/V | 0.9837 | likely_pathogenic | 0.9787 | pathogenic | 1.285 | Stabilizing | 1.0 | D | 0.897 | deleterious | D | 0.640995433 | None | None | N |
| D/W | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | 1.398 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/Y | 0.9596 | likely_pathogenic | 0.9581 | pathogenic | 1.575 | Stabilizing | 1.0 | D | 0.903 | deleterious | D | 0.624774268 | 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.