Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16948 | 51067;51068;51069 | chr2:178611387;178611386;178611385 | chr2:179476114;179476113;179476112 |
| N2AB | 15307 | 46144;46145;46146 | chr2:178611387;178611386;178611385 | chr2:179476114;179476113;179476112 |
| N2A | 14380 | 43363;43364;43365 | chr2:178611387;178611386;178611385 | chr2:179476114;179476113;179476112 |
| N2B | 7883 | 23872;23873;23874 | chr2:178611387;178611386;178611385 | chr2:179476114;179476113;179476112 |
| Novex-1 | 8008 | 24247;24248;24249 | chr2:178611387;178611386;178611385 | chr2:179476114;179476113;179476112 |
| Novex-2 | 8075 | 24448;24449;24450 | chr2:178611387;178611386;178611385 | chr2:179476114;179476113;179476112 |
| 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 | rs1460058414  |
-1.845 | 0.379 | N | 0.372 | 0.142 | 0.302793454619 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| A/T | rs1460058414 |
-1.845 | 0.379 | N | 0.372 | 0.142 | 0.302793454619 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1460058414 |
-1.845 | 0.379 | N | 0.372 | 0.142 | 0.302793454619 | gnomAD-4.0.0 | 5.13144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.58382E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6947 | likely_pathogenic | 0.7066 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/D | 0.9949 | likely_pathogenic | 0.9943 | pathogenic | -2.8 | Highly Destabilizing | 0.986 | D | 0.821 | deleterious | D | 0.606344356 | None | None | N |
| A/E | 0.9873 | likely_pathogenic | 0.9853 | pathogenic | -2.658 | Highly Destabilizing | 0.989 | D | 0.756 | deleterious | None | None | None | None | N |
| A/F | 0.9584 | likely_pathogenic | 0.9416 | pathogenic | -0.977 | Destabilizing | 0.995 | D | 0.815 | deleterious | None | None | None | None | N |
| A/G | 0.5293 | ambiguous | 0.5457 | ambiguous | -1.85 | Destabilizing | 0.952 | D | 0.567 | neutral | D | 0.606344356 | None | None | N |
| A/H | 0.9931 | likely_pathogenic | 0.9915 | pathogenic | -1.956 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/I | 0.7256 | likely_pathogenic | 0.6789 | pathogenic | -0.347 | Destabilizing | 0.989 | D | 0.813 | deleterious | None | None | None | None | N |
| A/K | 0.9957 | likely_pathogenic | 0.9947 | pathogenic | -1.577 | Destabilizing | 0.989 | D | 0.767 | deleterious | None | None | None | None | N |
| A/L | 0.6548 | likely_pathogenic | 0.6193 | pathogenic | -0.347 | Destabilizing | 0.929 | D | 0.698 | prob.delet. | None | None | None | None | N |
| A/M | 0.8165 | likely_pathogenic | 0.7839 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/N | 0.9733 | likely_pathogenic | 0.9702 | pathogenic | -1.819 | Destabilizing | 0.989 | D | 0.815 | deleterious | None | None | None | None | N |
| A/P | 0.6882 | likely_pathogenic | 0.6245 | pathogenic | -0.67 | Destabilizing | 0.993 | D | 0.834 | deleterious | N | 0.518493555 | None | None | N |
| A/Q | 0.9746 | likely_pathogenic | 0.9706 | pathogenic | -1.755 | Destabilizing | 0.995 | D | 0.837 | deleterious | None | None | None | None | N |
| A/R | 0.985 | likely_pathogenic | 0.9801 | pathogenic | -1.443 | Destabilizing | 0.995 | D | 0.833 | deleterious | None | None | None | None | N |
| A/S | 0.3497 | ambiguous | 0.3566 | ambiguous | -2.213 | Highly Destabilizing | 0.908 | D | 0.589 | neutral | D | 0.604604163 | None | None | N |
| A/T | 0.4186 | ambiguous | 0.4184 | ambiguous | -1.961 | Destabilizing | 0.379 | N | 0.372 | neutral | N | 0.473071587 | None | None | N |
| A/V | 0.4177 | ambiguous | 0.3786 | ambiguous | -0.67 | Destabilizing | 0.908 | D | 0.595 | neutral | N | 0.473346943 | None | None | N |
| A/W | 0.9958 | likely_pathogenic | 0.9942 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/Y | 0.9882 | likely_pathogenic | 0.9842 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.809 | 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.