Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15453 | 46582;46583;46584 | chr2:178620060;178620059;178620058 | chr2:179484787;179484786;179484785 |
| N2AB | 13812 | 41659;41660;41661 | chr2:178620060;178620059;178620058 | chr2:179484787;179484786;179484785 |
| N2A | 12885 | 38878;38879;38880 | chr2:178620060;178620059;178620058 | chr2:179484787;179484786;179484785 |
| N2B | 6388 | 19387;19388;19389 | chr2:178620060;178620059;178620058 | chr2:179484787;179484786;179484785 |
| Novex-1 | 6513 | 19762;19763;19764 | chr2:178620060;178620059;178620058 | chr2:179484787;179484786;179484785 |
| Novex-2 | 6580 | 19963;19964;19965 | chr2:178620060;178620059;178620058 | chr2:179484787;179484786;179484785 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | rs1553714751  |
None | 1.0 | N | 0.689 | 0.332 | 0.303781844768 | gnomAD-4.0.0 | 6.84947E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00156E-07 | 0 | 0 |
| R/T | rs1325948079 |
-0.12 | 1.0 | N | 0.677 | 0.438 | 0.516827169674 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| R/T | rs1325948079 |
-0.12 | 1.0 | N | 0.677 | 0.438 | 0.516827169674 | gnomAD-4.0.0 | 1.59522E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86517E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.757 | likely_pathogenic | 0.8038 | pathogenic | -0.971 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| R/C | 0.444 | ambiguous | 0.4032 | ambiguous | -0.787 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/D | 0.8979 | likely_pathogenic | 0.9204 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| R/E | 0.6997 | likely_pathogenic | 0.7494 | pathogenic | -0.117 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| R/F | 0.8213 | likely_pathogenic | 0.8443 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/G | 0.6117 | likely_pathogenic | 0.6804 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.504035804 | None | None | N |
| R/H | 0.1803 | likely_benign | 0.1887 | benign | -1.716 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| R/I | 0.6601 | likely_pathogenic | 0.6946 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/K | 0.1664 | likely_benign | 0.2005 | benign | -0.977 | Destabilizing | 0.997 | D | 0.486 | neutral | N | 0.479974646 | None | None | N |
| R/L | 0.5068 | ambiguous | 0.5472 | ambiguous | -0.045 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| R/M | 0.6598 | likely_pathogenic | 0.7052 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | D | 0.584151158 | None | None | N |
| R/N | 0.7971 | likely_pathogenic | 0.8329 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| R/P | 0.9472 | likely_pathogenic | 0.9652 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/Q | 0.1898 | likely_benign | 0.1983 | benign | -0.58 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/S | 0.7638 | likely_pathogenic | 0.8066 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.500549486 | None | None | N |
| R/T | 0.5968 | likely_pathogenic | 0.6587 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.497403076 | None | None | N |
| R/V | 0.7003 | likely_pathogenic | 0.7467 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| R/W | 0.5033 | ambiguous | 0.5143 | ambiguous | -0.389 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.585519447 | None | None | N |
| R/Y | 0.7175 | likely_pathogenic | 0.7389 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | 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.