Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17833 | 53722;53723;53724 | chr2:178607105;178607104;178607103 | chr2:179471832;179471831;179471830 |
| N2AB | 16192 | 48799;48800;48801 | chr2:178607105;178607104;178607103 | chr2:179471832;179471831;179471830 |
| N2A | 15265 | 46018;46019;46020 | chr2:178607105;178607104;178607103 | chr2:179471832;179471831;179471830 |
| N2B | 8768 | 26527;26528;26529 | chr2:178607105;178607104;178607103 | chr2:179471832;179471831;179471830 |
| Novex-1 | 8893 | 26902;26903;26904 | chr2:178607105;178607104;178607103 | chr2:179471832;179471831;179471830 |
| Novex-2 | 8960 | 27103;27104;27105 | chr2:178607105;178607104;178607103 | chr2:179471832;179471831;179471830 |
| 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/F | None | None | 0.999 | D | 0.741 | 0.895 | 0.889162032258 | gnomAD-4.0.0 | 1.36932E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79976E-06 | 0 | 0 |
| Y/H | rs1238654352  |
-2.563 | 1.0 | D | 0.827 | 0.916 | 0.774202467158 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs1238654352 |
-2.563 | 1.0 | D | 0.827 | 0.916 | 0.774202467158 | gnomAD-4.0.0 | 3.1874E-06 | None | None | None | None | N | None | 0 | 4.57854E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9974 | likely_pathogenic | 0.9973 | pathogenic | -3.359 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| Y/C | 0.9787 | likely_pathogenic | 0.9813 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.659006016 | None | None | N |
| Y/D | 0.9951 | likely_pathogenic | 0.9963 | pathogenic | -3.696 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.659006016 | None | None | N |
| Y/E | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -3.503 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| Y/F | 0.5418 | ambiguous | 0.5192 | ambiguous | -1.22 | Destabilizing | 0.999 | D | 0.741 | deleterious | D | 0.631651665 | None | None | N |
| Y/G | 0.9859 | likely_pathogenic | 0.9828 | pathogenic | -3.746 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/H | 0.9912 | likely_pathogenic | 0.9931 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.659006016 | None | None | N |
| Y/I | 0.9858 | likely_pathogenic | 0.9865 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/K | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.331 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/L | 0.9688 | likely_pathogenic | 0.9684 | pathogenic | -2.058 | Highly Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/M | 0.9885 | likely_pathogenic | 0.9893 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| Y/N | 0.9734 | likely_pathogenic | 0.9807 | pathogenic | -3.055 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.658804211 | None | None | N |
| Y/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/Q | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -2.849 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/R | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/S | 0.9922 | likely_pathogenic | 0.9932 | pathogenic | -3.367 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | D | 0.659006016 | None | None | N |
| Y/T | 0.9964 | likely_pathogenic | 0.997 | pathogenic | -3.067 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/V | 0.97 | likely_pathogenic | 0.9732 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| Y/W | 0.9119 | likely_pathogenic | 0.9211 | pathogenic | -0.528 | 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.