Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18856 | 56791;56792;56793 | chr2:178599227;178599226;178599225 | chr2:179463954;179463953;179463952 |
| N2AB | 17215 | 51868;51869;51870 | chr2:178599227;178599226;178599225 | chr2:179463954;179463953;179463952 |
| N2A | 16288 | 49087;49088;49089 | chr2:178599227;178599226;178599225 | chr2:179463954;179463953;179463952 |
| N2B | 9791 | 29596;29597;29598 | chr2:178599227;178599226;178599225 | chr2:179463954;179463953;179463952 |
| Novex-1 | 9916 | 29971;29972;29973 | chr2:178599227;178599226;178599225 | chr2:179463954;179463953;179463952 |
| Novex-2 | 9983 | 30172;30173;30174 | chr2:178599227;178599226;178599225 | chr2:179463954;179463953;179463952 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs762168752  |
-2.171 | 0.91 | N | 0.695 | 0.185 | 0.412587454835 | gnomAD-2.1.1 | 5.24E-06 | None | None | None | None | N | None | 6.9E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs762168752 |
-2.171 | 0.91 | N | 0.695 | 0.185 | 0.412587454835 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs762168752 |
-2.171 | 0.91 | N | 0.695 | 0.185 | 0.412587454835 | gnomAD-4.0.0 | 5.66852E-06 | None | None | None | None | N | None | 7.09195E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3205 | likely_benign | 0.3603 | ambiguous | -1.97 | Destabilizing | 0.91 | D | 0.695 | prob.neutral | N | 0.462396233 | None | None | N |
| V/C | 0.6513 | likely_pathogenic | 0.6605 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| V/D | 0.6708 | likely_pathogenic | 0.704 | pathogenic | -2.616 | Highly Destabilizing | 0.942 | D | 0.789 | deleterious | None | None | None | None | N |
| V/E | 0.3802 | ambiguous | 0.3931 | ambiguous | -2.375 | Highly Destabilizing | 0.122 | N | 0.544 | neutral | N | 0.371619513 | None | None | N |
| V/F | 0.2747 | likely_benign | 0.3128 | benign | -1.084 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| V/G | 0.4382 | ambiguous | 0.4907 | ambiguous | -2.501 | Highly Destabilizing | 0.98 | D | 0.791 | deleterious | N | 0.502146699 | None | None | N |
| V/H | 0.651 | likely_pathogenic | 0.6769 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/I | 0.0727 | likely_benign | 0.0717 | benign | -0.466 | Destabilizing | 0.984 | D | 0.65 | neutral | N | 0.404830796 | None | None | N |
| V/K | 0.4729 | ambiguous | 0.4985 | ambiguous | -1.441 | Destabilizing | 0.97 | D | 0.759 | deleterious | None | None | None | None | N |
| V/L | 0.2032 | likely_benign | 0.2077 | benign | -0.466 | Destabilizing | 0.954 | D | 0.719 | prob.delet. | N | 0.443349112 | None | None | N |
| V/M | 0.1585 | likely_benign | 0.1669 | benign | -0.53 | Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| V/N | 0.4611 | ambiguous | 0.4682 | ambiguous | -1.825 | Destabilizing | 0.996 | D | 0.823 | deleterious | None | None | None | None | N |
| V/P | 0.9774 | likely_pathogenic | 0.9819 | pathogenic | -0.944 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| V/Q | 0.3611 | ambiguous | 0.369 | ambiguous | -1.61 | Destabilizing | 0.991 | D | 0.791 | deleterious | None | None | None | None | N |
| V/R | 0.4343 | ambiguous | 0.4505 | ambiguous | -1.399 | Destabilizing | 0.991 | D | 0.834 | deleterious | None | None | None | None | N |
| V/S | 0.3563 | ambiguous | 0.3691 | ambiguous | -2.383 | Highly Destabilizing | 0.97 | D | 0.767 | deleterious | None | None | None | None | N |
| V/T | 0.2304 | likely_benign | 0.2386 | benign | -2.01 | Highly Destabilizing | 0.985 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/W | 0.8622 | likely_pathogenic | 0.8938 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/Y | 0.6125 | likely_pathogenic | 0.6454 | pathogenic | -1.282 | Destabilizing | 0.999 | D | 0.813 | 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.