Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18539 | 55840;55841;55842 | chr2:178601382;178601381;178601380 | chr2:179466109;179466108;179466107 |
| N2AB | 16898 | 50917;50918;50919 | chr2:178601382;178601381;178601380 | chr2:179466109;179466108;179466107 |
| N2A | 15971 | 48136;48137;48138 | chr2:178601382;178601381;178601380 | chr2:179466109;179466108;179466107 |
| N2B | 9474 | 28645;28646;28647 | chr2:178601382;178601381;178601380 | chr2:179466109;179466108;179466107 |
| Novex-1 | 9599 | 29020;29021;29022 | chr2:178601382;178601381;178601380 | chr2:179466109;179466108;179466107 |
| Novex-2 | 9666 | 29221;29222;29223 | chr2:178601382;178601381;178601380 | chr2:179466109;179466108;179466107 |
| 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 | rs573082979  |
-1.143 | 0.174 | N | 0.501 | 0.191 | 0.432493127443 | gnomAD-2.1.1 | 6.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.55919E-04 | None | 0 | 0 | 0 |
| V/A | rs573082979 |
-1.143 | 0.174 | N | 0.501 | 0.191 | 0.432493127443 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.21118E-04 | 0 |
| V/A | rs573082979 |
-1.143 | 0.174 | N | 0.501 | 0.191 | 0.432493127443 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/A | rs573082979 |
-1.143 | 0.174 | N | 0.501 | 0.191 | 0.432493127443 | gnomAD-4.0.0 | 2.79017E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.72569E-04 | 3.20297E-05 |
| V/I | rs1060500557 |
None | 0.003 | N | 0.28 | 0.058 | None | gnomAD-4.0.0 | 1.36924E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79962E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2692 | likely_benign | 0.2452 | benign | -1.209 | Destabilizing | 0.174 | N | 0.501 | neutral | N | 0.490948271 | None | None | N |
| V/C | 0.7221 | likely_pathogenic | 0.7193 | pathogenic | -0.911 | Destabilizing | 0.991 | D | 0.646 | neutral | None | None | None | None | N |
| V/D | 0.6136 | likely_pathogenic | 0.5531 | ambiguous | -0.741 | Destabilizing | 0.826 | D | 0.755 | deleterious | None | None | None | None | N |
| V/E | 0.535 | ambiguous | 0.4658 | ambiguous | -0.723 | Destabilizing | 0.782 | D | 0.722 | prob.delet. | N | 0.49466058 | None | None | N |
| V/F | 0.2731 | likely_benign | 0.2797 | benign | -0.861 | Destabilizing | 0.704 | D | 0.659 | neutral | None | None | None | None | N |
| V/G | 0.4676 | ambiguous | 0.4727 | ambiguous | -1.529 | Destabilizing | 0.782 | D | 0.712 | prob.delet. | N | 0.470661223 | None | None | N |
| V/H | 0.6137 | likely_pathogenic | 0.5986 | pathogenic | -0.965 | Destabilizing | 0.991 | D | 0.766 | deleterious | None | None | None | None | N |
| V/I | 0.076 | likely_benign | 0.0749 | benign | -0.437 | Destabilizing | 0.003 | N | 0.28 | neutral | N | 0.503800138 | None | None | N |
| V/K | 0.5963 | likely_pathogenic | 0.5798 | pathogenic | -0.992 | Destabilizing | 0.826 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/L | 0.1904 | likely_benign | 0.1813 | benign | -0.437 | Destabilizing | 0.001 | N | 0.166 | neutral | N | 0.466532616 | None | None | N |
| V/M | 0.1763 | likely_benign | 0.177 | benign | -0.429 | Destabilizing | 0.704 | D | 0.552 | neutral | None | None | None | None | N |
| V/N | 0.3366 | likely_benign | 0.3163 | benign | -0.899 | Destabilizing | 0.826 | D | 0.757 | deleterious | None | None | None | None | N |
| V/P | 0.6936 | likely_pathogenic | 0.6629 | pathogenic | -0.658 | Destabilizing | 0.906 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/Q | 0.4424 | ambiguous | 0.4111 | ambiguous | -0.993 | Destabilizing | 0.906 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/R | 0.52 | ambiguous | 0.5078 | ambiguous | -0.537 | Destabilizing | 0.906 | D | 0.758 | deleterious | None | None | None | None | N |
| V/S | 0.2763 | likely_benign | 0.2635 | benign | -1.458 | Destabilizing | 0.704 | D | 0.662 | neutral | None | None | None | None | N |
| V/T | 0.1622 | likely_benign | 0.164 | benign | -1.315 | Destabilizing | 0.018 | N | 0.319 | neutral | None | None | None | None | N |
| V/W | 0.8638 | likely_pathogenic | 0.8609 | pathogenic | -1.052 | Destabilizing | 0.991 | D | 0.771 | deleterious | None | None | None | None | N |
| V/Y | 0.6209 | likely_pathogenic | 0.6123 | pathogenic | -0.733 | Destabilizing | 0.906 | D | 0.669 | neutral | 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.