Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19313 | 58162;58163;58164 | chr2:178594557;178594556;178594555 | chr2:179459284;179459283;179459282 |
| N2AB | 17672 | 53239;53240;53241 | chr2:178594557;178594556;178594555 | chr2:179459284;179459283;179459282 |
| N2A | 16745 | 50458;50459;50460 | chr2:178594557;178594556;178594555 | chr2:179459284;179459283;179459282 |
| N2B | 10248 | 30967;30968;30969 | chr2:178594557;178594556;178594555 | chr2:179459284;179459283;179459282 |
| Novex-1 | 10373 | 31342;31343;31344 | chr2:178594557;178594556;178594555 | chr2:179459284;179459283;179459282 |
| Novex-2 | 10440 | 31543;31544;31545 | chr2:178594557;178594556;178594555 | chr2:179459284;179459283;179459282 |
| 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/A | rs777653912  |
-0.162 | 1.0 | N | 0.658 | 0.437 | 0.416075642716 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs777653912 |
-0.162 | 1.0 | N | 0.658 | 0.437 | 0.416075642716 | gnomAD-4.0.0 | 1.59243E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77963E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.826 | 0.468 | 0.701989571725 | gnomAD-4.0.0 | 3.1848E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.82859E-04 | 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 | 0.8973 | likely_pathogenic | 0.9218 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.658 | neutral | N | 0.489200459 | None | None | I |
| G/C | 0.96 | likely_pathogenic | 0.9668 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/D | 0.975 | likely_pathogenic | 0.98 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| G/E | 0.9864 | likely_pathogenic | 0.9888 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.501837439 | None | None | I |
| G/F | 0.9915 | likely_pathogenic | 0.9918 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.9902 | likely_pathogenic | 0.9926 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/I | 0.9884 | likely_pathogenic | 0.9911 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/K | 0.99 | likely_pathogenic | 0.9927 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/L | 0.9842 | likely_pathogenic | 0.9887 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/M | 0.9899 | likely_pathogenic | 0.9924 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/N | 0.9566 | likely_pathogenic | 0.9687 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/Q | 0.9835 | likely_pathogenic | 0.9874 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/R | 0.9794 | likely_pathogenic | 0.9828 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.501583949 | None | None | I |
| G/S | 0.8475 | likely_pathogenic | 0.8683 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| G/T | 0.9697 | likely_pathogenic | 0.9763 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/V | 0.9825 | likely_pathogenic | 0.9863 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.534576455 | None | None | I |
| G/W | 0.9923 | likely_pathogenic | 0.9914 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.535843903 | None | None | I |
| G/Y | 0.9877 | likely_pathogenic | 0.9895 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.781 | 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.