Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3033 | 9322;9323;9324 | chr2:178768739;178768738;178768737 | chr2:179633466;179633465;179633464 |
| N2AB | 3033 | 9322;9323;9324 | chr2:178768739;178768738;178768737 | chr2:179633466;179633465;179633464 |
| N2A | 3033 | 9322;9323;9324 | chr2:178768739;178768738;178768737 | chr2:179633466;179633465;179633464 |
| N2B | 2987 | 9184;9185;9186 | chr2:178768739;178768738;178768737 | chr2:179633466;179633465;179633464 |
| Novex-1 | 2987 | 9184;9185;9186 | chr2:178768739;178768738;178768737 | chr2:179633466;179633465;179633464 |
| Novex-2 | 2987 | 9184;9185;9186 | chr2:178768739;178768738;178768737 | chr2:179633466;179633465;179633464 |
| Novex-3 | 3033 | 9322;9323;9324 | chr2:178768739;178768738;178768737 | chr2:179633466;179633465;179633464 |
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/E | rs772024586  |
-0.457 | 1.0 | N | 0.787 | 0.448 | 0.361558571881 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 0 | 0 |
| G/E | rs772024586 |
-0.457 | 1.0 | N | 0.787 | 0.448 | 0.361558571881 | gnomAD-4.0.0 | 1.59062E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88168E-05 | 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 | 0.4775 | ambiguous | 0.4001 | ambiguous | -0.336 | Destabilizing | 0.974 | D | 0.527 | neutral | N | 0.443682786 | None | None | N |
| G/C | 0.8232 | likely_pathogenic | 0.8015 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/D | 0.9102 | likely_pathogenic | 0.8295 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/E | 0.8994 | likely_pathogenic | 0.8087 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.381578137 | None | None | N |
| G/F | 0.9705 | likely_pathogenic | 0.9632 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/H | 0.9522 | likely_pathogenic | 0.9226 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/I | 0.9031 | likely_pathogenic | 0.859 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/K | 0.9622 | likely_pathogenic | 0.9358 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/L | 0.9153 | likely_pathogenic | 0.8826 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/M | 0.942 | likely_pathogenic | 0.9157 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/N | 0.8877 | likely_pathogenic | 0.8188 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/P | 0.9651 | likely_pathogenic | 0.9608 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/Q | 0.9023 | likely_pathogenic | 0.8485 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/R | 0.9028 | likely_pathogenic | 0.8464 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.444788607 | None | None | N |
| G/S | 0.4124 | ambiguous | 0.2918 | benign | -0.624 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| G/T | 0.731 | likely_pathogenic | 0.6208 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/V | 0.8225 | likely_pathogenic | 0.755 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.460378321 | None | None | N |
| G/W | 0.9309 | likely_pathogenic | 0.9122 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.461134807 | None | None | N |
| G/Y | 0.9618 | likely_pathogenic | 0.9499 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.776 | 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.