Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25493 | 76702;76703;76704 | chr2:178569655;178569654;178569653 | chr2:179434382;179434381;179434380 |
| N2AB | 23852 | 71779;71780;71781 | chr2:178569655;178569654;178569653 | chr2:179434382;179434381;179434380 |
| N2A | 22925 | 68998;68999;69000 | chr2:178569655;178569654;178569653 | chr2:179434382;179434381;179434380 |
| N2B | 16428 | 49507;49508;49509 | chr2:178569655;178569654;178569653 | chr2:179434382;179434381;179434380 |
| Novex-1 | 16553 | 49882;49883;49884 | chr2:178569655;178569654;178569653 | chr2:179434382;179434381;179434380 |
| Novex-2 | 16620 | 50083;50084;50085 | chr2:178569655;178569654;178569653 | chr2:179434382;179434381;179434380 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs1707414418  |
None | 1.0 | N | 0.797 | 0.425 | 0.412328234245 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93723E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs1707414418 |
None | 1.0 | N | 0.797 | 0.425 | 0.412328234245 | gnomAD-4.0.0 | 6.57739E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93723E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1707415905 |
None | 1.0 | N | 0.742 | 0.266 | 0.272639205421 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4191 | ambiguous | 0.4812 | ambiguous | -0.892 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/D | 0.7644 | likely_pathogenic | 0.8349 | pathogenic | -2.324 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.483453927 | None | None | N |
| A/E | 0.7021 | likely_pathogenic | 0.7704 | pathogenic | -2.308 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/F | 0.6374 | likely_pathogenic | 0.715 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/G | 0.2103 | likely_benign | 0.2557 | benign | -1.529 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.482693458 | None | None | N |
| A/H | 0.7828 | likely_pathogenic | 0.8326 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/I | 0.3675 | ambiguous | 0.4266 | ambiguous | -0.526 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/K | 0.7934 | likely_pathogenic | 0.8446 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/L | 0.4045 | ambiguous | 0.4706 | ambiguous | -0.526 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/M | 0.3557 | ambiguous | 0.4145 | ambiguous | -0.27 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/N | 0.5981 | likely_pathogenic | 0.6887 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/P | 0.9557 | likely_pathogenic | 0.964 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.507154582 | None | None | N |
| A/Q | 0.6467 | likely_pathogenic | 0.7001 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/R | 0.6898 | likely_pathogenic | 0.7251 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/S | 0.1148 | likely_benign | 0.1335 | benign | -1.618 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.418289512 | None | None | N |
| A/T | 0.1044 | likely_benign | 0.1262 | benign | -1.538 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.463321755 | None | None | N |
| A/V | 0.1624 | likely_benign | 0.1874 | benign | -0.724 | Destabilizing | 1.0 | D | 0.654 | neutral | N | 0.508981379 | None | None | N |
| A/W | 0.9284 | likely_pathogenic | 0.9447 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/Y | 0.7891 | likely_pathogenic | 0.8417 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.851 | 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.