Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23068 | 69427;69428;69429 | chr2:178577133;178577132;178577131 | chr2:179441860;179441859;179441858 |
| N2AB | 21427 | 64504;64505;64506 | chr2:178577133;178577132;178577131 | chr2:179441860;179441859;179441858 |
| N2A | 20500 | 61723;61724;61725 | chr2:178577133;178577132;178577131 | chr2:179441860;179441859;179441858 |
| N2B | 14003 | 42232;42233;42234 | chr2:178577133;178577132;178577131 | chr2:179441860;179441859;179441858 |
| Novex-1 | 14128 | 42607;42608;42609 | chr2:178577133;178577132;178577131 | chr2:179441860;179441859;179441858 |
| Novex-2 | 14195 | 42808;42809;42810 | chr2:178577133;178577132;178577131 | chr2:179441860;179441859;179441858 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs528841156  |
-0.738 | 1.0 | D | 0.848 | 0.494 | 0.388495093706 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs528841156 |
-0.738 | 1.0 | D | 0.848 | 0.494 | 0.388495093706 | gnomAD-4.0.0 | 4.77716E-06 | None | None | None | None | I | None | 0 | 6.86059E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.798 | 0.483 | 0.311691414656 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs528841156 |
-0.447 | 1.0 | D | 0.809 | 0.454 | 0.842370778736 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/V | rs528841156 |
-0.447 | 1.0 | D | 0.809 | 0.454 | 0.842370778736 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07987E-04 | 0 |
| G/V | rs528841156 |
-0.447 | 1.0 | D | 0.809 | 0.454 | 0.842370778736 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/V | rs528841156 |
-0.447 | 1.0 | D | 0.809 | 0.454 | 0.842370778736 | gnomAD-4.0.0 | 2.56411E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.68154E-05 | 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 | 0.9634 | likely_pathogenic | 0.9662 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.527643333 | None | None | I |
| G/C | 0.9866 | likely_pathogenic | 0.9912 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.558371341 | None | None | I |
| G/D | 0.9967 | likely_pathogenic | 0.9975 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.544987119 | None | None | I |
| G/E | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/F | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/H | 0.998 | likely_pathogenic | 0.9988 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/I | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/K | 0.9968 | likely_pathogenic | 0.9983 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/L | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/N | 0.9961 | likely_pathogenic | 0.9978 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/Q | 0.9971 | likely_pathogenic | 0.9983 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/R | 0.9895 | likely_pathogenic | 0.9933 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.513146702 | None | None | I |
| G/S | 0.948 | likely_pathogenic | 0.9619 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.520046009 | None | None | I |
| G/T | 0.9942 | likely_pathogenic | 0.9957 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.546761546 | None | None | I |
| G/W | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/Y | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.777 | deleterious | 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.