Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3216 | 9871;9872;9873 | chr2:178766438;178766437;178766436 | chr2:179631165;179631164;179631163 |
| N2AB | 3216 | 9871;9872;9873 | chr2:178766438;178766437;178766436 | chr2:179631165;179631164;179631163 |
| N2A | 3216 | 9871;9872;9873 | chr2:178766438;178766437;178766436 | chr2:179631165;179631164;179631163 |
| N2B | 3170 | 9733;9734;9735 | chr2:178766438;178766437;178766436 | chr2:179631165;179631164;179631163 |
| Novex-1 | 3170 | 9733;9734;9735 | chr2:178766438;178766437;178766436 | chr2:179631165;179631164;179631163 |
| Novex-2 | 3170 | 9733;9734;9735 | chr2:178766438;178766437;178766436 | chr2:179631165;179631164;179631163 |
| Novex-3 | 3216 | 9871;9872;9873 | chr2:178766438;178766437;178766436 | chr2:179631165;179631164;179631163 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs573941323  |
-0.353 | 1.0 | N | 0.741 | 0.516 | 0.101711395817 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs573941323 |
-0.353 | 1.0 | N | 0.741 | 0.516 | 0.101711395817 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs573941323 |
-0.353 | 1.0 | N | 0.741 | 0.516 | 0.101711395817 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/A | rs573941323 |
-0.353 | 1.0 | N | 0.741 | 0.516 | 0.101711395817 | gnomAD-4.0.0 | 4.05911E-06 | None | None | None | None | I | None | 6.97253E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8594 | likely_pathogenic | 0.8623 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.455551284 | None | None | I |
| G/C | 0.9873 | likely_pathogenic | 0.9908 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/D | 0.991 | likely_pathogenic | 0.9927 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/E | 0.9929 | likely_pathogenic | 0.9957 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.517215861 | None | None | I |
| G/F | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/H | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| G/I | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | 0.037 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/K | 0.9968 | likely_pathogenic | 0.9982 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/L | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | 0.037 | Stabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| G/M | 0.9985 | likely_pathogenic | 0.999 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/N | 0.9964 | likely_pathogenic | 0.9974 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| G/Q | 0.9945 | likely_pathogenic | 0.9966 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/R | 0.9888 | likely_pathogenic | 0.9937 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.51821931 | None | None | I |
| G/S | 0.8865 | likely_pathogenic | 0.9167 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/T | 0.9894 | likely_pathogenic | 0.9927 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/V | 0.9934 | likely_pathogenic | 0.9962 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.519151273 | None | None | I |
| G/W | 0.9975 | likely_pathogenic | 0.9986 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
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.