Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20093 | 60502;60503;60504 | chr2:178591448;178591447;178591446 | chr2:179456175;179456174;179456173 |
| N2AB | 18452 | 55579;55580;55581 | chr2:178591448;178591447;178591446 | chr2:179456175;179456174;179456173 |
| N2A | 17525 | 52798;52799;52800 | chr2:178591448;178591447;178591446 | chr2:179456175;179456174;179456173 |
| N2B | 11028 | 33307;33308;33309 | chr2:178591448;178591447;178591446 | chr2:179456175;179456174;179456173 |
| Novex-1 | 11153 | 33682;33683;33684 | chr2:178591448;178591447;178591446 | chr2:179456175;179456174;179456173 |
| Novex-2 | 11220 | 33883;33884;33885 | chr2:178591448;178591447;178591446 | chr2:179456175;179456174;179456173 |
| 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/R | rs1229011306  |
0.048 | 1.0 | D | 0.832 | 0.693 | 0.749776601627 | gnomAD-2.1.1 | 1.28E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.72E-05 | None | 7.48E-05 | None | 0 | 0 | 0 |
| G/R | rs1229011306 |
0.048 | 1.0 | D | 0.832 | 0.693 | 0.749776601627 | gnomAD-4.0.0 | 4.89598E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.78288E-05 | None | 0 | 0 | 0 | 3.00336E-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 | 0.6861 | likely_pathogenic | 0.6741 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.593412398 | None | None | I |
| G/C | 0.8273 | likely_pathogenic | 0.8179 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/D | 0.6339 | likely_pathogenic | 0.6099 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/E | 0.7936 | likely_pathogenic | 0.7703 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.615448398 | None | None | I |
| G/F | 0.9708 | likely_pathogenic | 0.9658 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/H | 0.8517 | likely_pathogenic | 0.8342 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/I | 0.9842 | likely_pathogenic | 0.9815 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.8662 | likely_pathogenic | 0.8492 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/L | 0.946 | likely_pathogenic | 0.9392 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9552 | likely_pathogenic | 0.9473 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/N | 0.5204 | ambiguous | 0.5142 | ambiguous | -0.343 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9973 | likely_pathogenic | 0.9966 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/Q | 0.7861 | likely_pathogenic | 0.7686 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/R | 0.7977 | likely_pathogenic | 0.7745 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.633082193 | None | None | I |
| G/S | 0.3716 | ambiguous | 0.364 | ambiguous | -0.462 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/T | 0.8429 | likely_pathogenic | 0.8251 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/V | 0.9638 | likely_pathogenic | 0.9603 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.649535523 | None | None | I |
| G/W | 0.9536 | likely_pathogenic | 0.9425 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Y | 0.9416 | likely_pathogenic | 0.9305 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.801 | 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.