Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33268 | 100027;100028;100029 | chr2:178537405;178537404;178537403 | chr2:179402132;179402131;179402130 |
| N2AB | 31627 | 95104;95105;95106 | chr2:178537405;178537404;178537403 | chr2:179402132;179402131;179402130 |
| N2A | 30700 | 92323;92324;92325 | chr2:178537405;178537404;178537403 | chr2:179402132;179402131;179402130 |
| N2B | 24203 | 72832;72833;72834 | chr2:178537405;178537404;178537403 | chr2:179402132;179402131;179402130 |
| Novex-1 | 24328 | 73207;73208;73209 | chr2:178537405;178537404;178537403 | chr2:179402132;179402131;179402130 |
| Novex-2 | 24395 | 73408;73409;73410 | chr2:178537405;178537404;178537403 | chr2:179402132;179402131;179402130 |
| 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 | None | None | 1.0 | D | 0.771 | 0.832 | 0.86700590744 | 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 |
| Y/H | None | None | 1.0 | D | 0.798 | 0.859 | 0.735362511717 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -2.77 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| Y/C | 0.9739 | likely_pathogenic | 0.9795 | pathogenic | -1.968 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.589345952 | None | None | N |
| Y/D | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -3.402 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.589345952 | None | None | N |
| Y/E | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -3.176 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| Y/F | 0.3567 | ambiguous | 0.3896 | ambiguous | -0.974 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.571106744 | None | None | N |
| Y/G | 0.9951 | likely_pathogenic | 0.9957 | pathogenic | -3.218 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| Y/H | 0.9891 | likely_pathogenic | 0.988 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.589144148 | None | None | N |
| Y/I | 0.9631 | likely_pathogenic | 0.9633 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| Y/K | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/L | 0.925 | likely_pathogenic | 0.9319 | pathogenic | -1.283 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| Y/M | 0.9856 | likely_pathogenic | 0.9862 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| Y/N | 0.9924 | likely_pathogenic | 0.9919 | pathogenic | -3.145 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.589345952 | None | None | N |
| Y/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/Q | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.802 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| Y/R | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/S | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -3.485 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.589345952 | None | None | N |
| Y/T | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -3.121 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| Y/V | 0.9503 | likely_pathogenic | 0.9547 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| Y/W | 0.8906 | likely_pathogenic | 0.8908 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.787 | 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.