Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20388 | 61387;61388;61389 | chr2:178590563;178590562;178590561 | chr2:179455290;179455289;179455288 |
| N2AB | 18747 | 56464;56465;56466 | chr2:178590563;178590562;178590561 | chr2:179455290;179455289;179455288 |
| N2A | 17820 | 53683;53684;53685 | chr2:178590563;178590562;178590561 | chr2:179455290;179455289;179455288 |
| N2B | 11323 | 34192;34193;34194 | chr2:178590563;178590562;178590561 | chr2:179455290;179455289;179455288 |
| Novex-1 | 11448 | 34567;34568;34569 | chr2:178590563;178590562;178590561 | chr2:179455290;179455289;179455288 |
| Novex-2 | 11515 | 34768;34769;34770 | chr2:178590563;178590562;178590561 | chr2:179455290;179455289;179455288 |
| 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/G | rs397517648  |
-2.13 | 0.999 | N | 0.631 | 0.366 | 0.250039746154 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.51E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs397517648 |
-2.13 | 0.999 | N | 0.631 | 0.366 | 0.250039746154 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs397517648 |
-2.13 | 0.999 | N | 0.631 | 0.366 | 0.250039746154 | gnomAD-4.0.0 | 2.4807E-06 | None | None | None | None | N | None | 5.34488E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs397517648 |
None | 0.767 | N | 0.321 | 0.267 | 0.233785782151 | gnomAD-4.0.0 | 6.84725E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99866E-07 | 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 | 0.538 | ambiguous | 0.4878 | ambiguous | -1.671 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/D | 0.9952 | likely_pathogenic | 0.9923 | pathogenic | -2.544 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.493408335 | None | None | N |
| A/E | 0.9859 | likely_pathogenic | 0.9762 | pathogenic | -2.335 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/F | 0.8964 | likely_pathogenic | 0.8174 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/G | 0.5851 | likely_pathogenic | 0.5422 | ambiguous | -1.668 | Destabilizing | 0.999 | D | 0.631 | neutral | N | 0.481887445 | None | None | N |
| A/H | 0.9917 | likely_pathogenic | 0.9855 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/I | 0.3997 | ambiguous | 0.3465 | ambiguous | 0.199 | Stabilizing | 0.994 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/K | 0.996 | likely_pathogenic | 0.9926 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/L | 0.4955 | ambiguous | 0.384 | ambiguous | 0.199 | Stabilizing | 0.994 | D | 0.656 | neutral | None | None | None | None | N |
| A/M | 0.5829 | likely_pathogenic | 0.4665 | ambiguous | -0.263 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/N | 0.9843 | likely_pathogenic | 0.9753 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/P | 0.9906 | likely_pathogenic | 0.9897 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.481887445 | None | None | N |
| A/Q | 0.9778 | likely_pathogenic | 0.9641 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/R | 0.9873 | likely_pathogenic | 0.9781 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/S | 0.4485 | ambiguous | 0.4145 | ambiguous | -2.194 | Highly Destabilizing | 0.998 | D | 0.627 | neutral | N | 0.466656799 | None | None | N |
| A/T | 0.3189 | likely_benign | 0.2774 | benign | -1.841 | Destabilizing | 0.996 | D | 0.641 | neutral | N | 0.470024161 | None | None | N |
| A/V | 0.1659 | likely_benign | 0.1421 | benign | -0.209 | Destabilizing | 0.767 | D | 0.321 | neutral | N | 0.382627861 | None | None | N |
| A/W | 0.9925 | likely_pathogenic | 0.9833 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/Y | 0.9723 | likely_pathogenic | 0.9487 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.867 | 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.