Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35621 | 107086;107087;107088 | chr2:178528890;178528889;178528888 | chr2:179393617;179393616;179393615 |
| N2AB | 33980 | 102163;102164;102165 | chr2:178528890;178528889;178528888 | chr2:179393617;179393616;179393615 |
| N2A | 33053 | 99382;99383;99384 | chr2:178528890;178528889;178528888 | chr2:179393617;179393616;179393615 |
| N2B | 26556 | 79891;79892;79893 | chr2:178528890;178528889;178528888 | chr2:179393617;179393616;179393615 |
| Novex-1 | 26681 | 80266;80267;80268 | chr2:178528890;178528889;178528888 | chr2:179393617;179393616;179393615 |
| Novex-2 | 26748 | 80467;80468;80469 | chr2:178528890;178528889;178528888 | chr2:179393617;179393616;179393615 |
| 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 | None | None | 0.974 | N | 0.523 | 0.588 | 0.541962755691 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.877 | 0.629 | 0.645408611234 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.313 | likely_benign | 0.3258 | benign | -0.333 | Destabilizing | 0.974 | D | 0.523 | neutral | N | 0.519587513 | None | None | N |
| G/C | 0.5208 | ambiguous | 0.6006 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.51995398 | None | None | N |
| G/D | 0.2291 | likely_benign | 0.2333 | benign | -0.892 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.518610268 | None | None | N |
| G/E | 0.278 | likely_benign | 0.2712 | benign | -1.076 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/F | 0.7741 | likely_pathogenic | 0.7751 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/H | 0.5407 | ambiguous | 0.5354 | ambiguous | -0.561 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/I | 0.6424 | likely_pathogenic | 0.6387 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/K | 0.4562 | ambiguous | 0.4451 | ambiguous | -0.801 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/L | 0.7302 | likely_pathogenic | 0.7205 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/M | 0.7368 | likely_pathogenic | 0.7359 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/N | 0.2937 | likely_benign | 0.2849 | benign | -0.433 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/P | 0.942 | likely_pathogenic | 0.9486 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/Q | 0.4306 | ambiguous | 0.405 | ambiguous | -0.801 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| G/R | 0.3812 | ambiguous | 0.3731 | ambiguous | -0.282 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.519709669 | None | None | N |
| G/S | 0.164 | likely_benign | 0.1628 | benign | -0.509 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.519465358 | None | None | N |
| G/T | 0.3593 | ambiguous | 0.3518 | ambiguous | -0.641 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/V | 0.5189 | ambiguous | 0.5228 | ambiguous | -0.447 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.519831825 | None | None | N |
| G/W | 0.6112 | likely_pathogenic | 0.6274 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/Y | 0.6068 | likely_pathogenic | 0.6284 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.877 | 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.