Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18878 | 56857;56858;56859 | chr2:178599161;178599160;178599159 | chr2:179463888;179463887;179463886 |
| N2AB | 17237 | 51934;51935;51936 | chr2:178599161;178599160;178599159 | chr2:179463888;179463887;179463886 |
| N2A | 16310 | 49153;49154;49155 | chr2:178599161;178599160;178599159 | chr2:179463888;179463887;179463886 |
| N2B | 9813 | 29662;29663;29664 | chr2:178599161;178599160;178599159 | chr2:179463888;179463887;179463886 |
| Novex-1 | 9938 | 30037;30038;30039 | chr2:178599161;178599160;178599159 | chr2:179463888;179463887;179463886 |
| Novex-2 | 10005 | 30238;30239;30240 | chr2:178599161;178599160;178599159 | chr2:179463888;179463887;179463886 |
| 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/T | rs886042564  |
None | 1.0 | N | 0.731 | 0.29 | 0.463672176093 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs886042564 |
None | 1.0 | N | 0.731 | 0.29 | 0.463672176093 | gnomAD-4.0.0 | 5.97801E-06 | None | None | None | None | N | None | 0 | 2.35638E-05 | None | 0 | 0 | None | 0 | 1.78508E-04 | 6.18984E-06 | 0 | 0 |
| A/V | rs751627987 |
-0.569 | 0.999 | N | 0.65 | 0.336 | 0.485776496936 | gnomAD-2.1.1 | 1.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.42389E-04 | None | 0 | 0 | 0 |
| A/V | rs751627987 |
-0.569 | 0.999 | N | 0.65 | 0.336 | 0.485776496936 | gnomAD-4.0.0 | 3.6938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.69349E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6585 | likely_pathogenic | 0.6981 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.729 | deleterious | None | None | None | None | N |
| A/D | 0.9943 | likely_pathogenic | 0.9965 | pathogenic | -2.996 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/E | 0.9864 | likely_pathogenic | 0.9906 | pathogenic | -2.903 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.498561166 | None | None | N |
| A/F | 0.9259 | likely_pathogenic | 0.9511 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/G | 0.5746 | likely_pathogenic | 0.6269 | pathogenic | -1.517 | Destabilizing | 0.999 | D | 0.55 | neutral | N | 0.498307676 | None | None | N |
| A/H | 0.9907 | likely_pathogenic | 0.9925 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/I | 0.6379 | likely_pathogenic | 0.7636 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/K | 0.9942 | likely_pathogenic | 0.9955 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/L | 0.6493 | likely_pathogenic | 0.7207 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/M | 0.7164 | likely_pathogenic | 0.7871 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/N | 0.9716 | likely_pathogenic | 0.9797 | pathogenic | -1.689 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/P | 0.695 | likely_pathogenic | 0.7987 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.481684679 | None | None | N |
| A/Q | 0.9679 | likely_pathogenic | 0.9733 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| A/R | 0.9816 | likely_pathogenic | 0.9846 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/S | 0.336 | likely_benign | 0.3731 | ambiguous | -1.952 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.490963842 | None | None | N |
| A/T | 0.5624 | ambiguous | 0.6599 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.731 | deleterious | N | 0.519401522 | None | None | N |
| A/V | 0.3583 | ambiguous | 0.4824 | ambiguous | -0.589 | Destabilizing | 0.999 | D | 0.65 | prob.neutral | N | 0.509797817 | None | None | N |
| A/W | 0.9948 | likely_pathogenic | 0.9963 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/Y | 0.9809 | likely_pathogenic | 0.9861 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.835 | 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.