Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24691 | 74296;74297;74298 | chr2:178572061;178572060;178572059 | chr2:179436788;179436787;179436786 |
| N2AB | 23050 | 69373;69374;69375 | chr2:178572061;178572060;178572059 | chr2:179436788;179436787;179436786 |
| N2A | 22123 | 66592;66593;66594 | chr2:178572061;178572060;178572059 | chr2:179436788;179436787;179436786 |
| N2B | 15626 | 47101;47102;47103 | chr2:178572061;178572060;178572059 | chr2:179436788;179436787;179436786 |
| Novex-1 | 15751 | 47476;47477;47478 | chr2:178572061;178572060;178572059 | chr2:179436788;179436787;179436786 |
| Novex-2 | 15818 | 47677;47678;47679 | chr2:178572061;178572060;178572059 | chr2:179436788;179436787;179436786 |
| 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/P | None | None | 1.0 | D | 0.866 | 0.746 | 0.671013503938 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | None | None | 0.996 | D | 0.645 | 0.544 | 0.754992625711 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.892 | likely_pathogenic | 0.8793 | pathogenic | -2.098 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/D | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.11 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.653828799 | None | None | N |
| A/E | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -2.89 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/F | 0.9953 | likely_pathogenic | 0.9944 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| A/G | 0.7615 | likely_pathogenic | 0.761 | pathogenic | -2.395 | Highly Destabilizing | 0.924 | D | 0.617 | neutral | D | 0.603924117 | None | None | N |
| A/H | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -2.13 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| A/I | 0.9836 | likely_pathogenic | 0.9785 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/L | 0.9369 | likely_pathogenic | 0.9229 | pathogenic | -0.842 | Destabilizing | 0.997 | D | 0.78 | deleterious | None | None | None | None | N |
| A/M | 0.98 | likely_pathogenic | 0.9725 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/N | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| A/P | 0.9937 | likely_pathogenic | 0.9938 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.636971861 | None | None | N |
| A/Q | 0.9957 | likely_pathogenic | 0.995 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/R | 0.9976 | likely_pathogenic | 0.9972 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/S | 0.4569 | ambiguous | 0.4355 | ambiguous | -2.456 | Highly Destabilizing | 0.993 | D | 0.604 | neutral | D | 0.565243702 | None | None | N |
| A/T | 0.8592 | likely_pathogenic | 0.7978 | pathogenic | -2.129 | Highly Destabilizing | 0.948 | D | 0.4 | neutral | D | 0.627281666 | None | None | N |
| A/V | 0.9064 | likely_pathogenic | 0.8706 | pathogenic | -1.193 | Destabilizing | 0.996 | D | 0.645 | neutral | D | 0.614835856 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/Y | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.926 | 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.