Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28521 | 85786;85787;85788 | chr2:178560571;178560570;178560569 | chr2:179425298;179425297;179425296 |
| N2AB | 26880 | 80863;80864;80865 | chr2:178560571;178560570;178560569 | chr2:179425298;179425297;179425296 |
| N2A | 25953 | 78082;78083;78084 | chr2:178560571;178560570;178560569 | chr2:179425298;179425297;179425296 |
| N2B | 19456 | 58591;58592;58593 | chr2:178560571;178560570;178560569 | chr2:179425298;179425297;179425296 |
| Novex-1 | 19581 | 58966;58967;58968 | chr2:178560571;178560570;178560569 | chr2:179425298;179425297;179425296 |
| Novex-2 | 19648 | 59167;59168;59169 | chr2:178560571;178560570;178560569 | chr2:179425298;179425297;179425296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1559288658  |
None | 1.0 | D | 0.881 | 0.906 | 0.93345210313 | gnomAD-4.0.0 | 2.73773E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.05485E-05 | None | 0 | 0 | 1.79909E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9929 | likely_pathogenic | 0.9956 | pathogenic | -3.623 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/C | 0.9443 | likely_pathogenic | 0.9665 | pathogenic | -2.126 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.688723091 | None | None | N |
| Y/D | 0.9808 | likely_pathogenic | 0.9877 | pathogenic | -3.834 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.688723091 | None | None | N |
| Y/E | 0.9961 | likely_pathogenic | 0.9974 | pathogenic | -3.644 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| Y/F | 0.4604 | ambiguous | 0.5255 | ambiguous | -1.442 | Destabilizing | 0.999 | D | 0.761 | deleterious | D | 0.654635966 | None | None | N |
| Y/G | 0.973 | likely_pathogenic | 0.983 | pathogenic | -4.015 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| Y/H | 0.9759 | likely_pathogenic | 0.9838 | pathogenic | -2.454 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.688723091 | None | None | N |
| Y/I | 0.9516 | likely_pathogenic | 0.9632 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/K | 0.9959 | likely_pathogenic | 0.9973 | pathogenic | -2.572 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| Y/L | 0.9371 | likely_pathogenic | 0.9474 | pathogenic | -2.299 | Highly Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/M | 0.9749 | likely_pathogenic | 0.982 | pathogenic | -1.957 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/N | 0.912 | likely_pathogenic | 0.9404 | pathogenic | -3.293 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.688521287 | None | None | N |
| Y/P | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/Q | 0.9964 | likely_pathogenic | 0.9978 | pathogenic | -3.101 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/R | 0.9914 | likely_pathogenic | 0.9941 | pathogenic | -2.137 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/S | 0.9771 | likely_pathogenic | 0.9852 | pathogenic | -3.646 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.688723091 | None | None | N |
| Y/T | 0.9887 | likely_pathogenic | 0.993 | pathogenic | -3.349 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/V | 0.9179 | likely_pathogenic | 0.9332 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/W | 0.9129 | likely_pathogenic | 0.9302 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.823 | 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.