Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7866 | 23821;23822;23823 | chr2:178720046;178720045;178720044 | chr2:179584773;179584772;179584771 |
| N2AB | 7549 | 22870;22871;22872 | chr2:178720046;178720045;178720044 | chr2:179584773;179584772;179584771 |
| N2A | 6622 | 20089;20090;20091 | chr2:178720046;178720045;178720044 | chr2:179584773;179584772;179584771 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | 0.828 | 0.904 | 0.81853282109 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| Y/F | rs368684128  |
-0.808 | 0.999 | D | 0.678 | 0.765 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Y/F | rs368684128 |
-0.808 | 0.999 | D | 0.678 | 0.765 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/F | rs368684128 |
-0.808 | 0.999 | D | 0.678 | 0.765 | None | gnomAD-4.0.0 | 9.91682E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35633E-05 | 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 | 0.9943 | likely_pathogenic | 0.9939 | pathogenic | -2.687 | Highly Destabilizing | 0.882 | D | 0.678 | prob.neutral | None | None | None | None | N |
| Y/C | 0.9582 | likely_pathogenic | 0.948 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.658298853 | None | None | N |
| Y/D | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -3.312 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.658298853 | None | None | N |
| Y/E | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -3.065 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| Y/F | 0.192 | likely_benign | 0.1761 | benign | -0.958 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | D | 0.582250647 | None | None | N |
| Y/G | 0.992 | likely_pathogenic | 0.9911 | pathogenic | -3.148 | Highly Destabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | N |
| Y/H | 0.9728 | likely_pathogenic | 0.9724 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.658097049 | None | None | N |
| Y/I | 0.8642 | likely_pathogenic | 0.8541 | pathogenic | -1.155 | Destabilizing | 0.997 | D | 0.755 | deleterious | None | None | None | None | N |
| Y/K | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -2.181 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| Y/L | 0.8074 | likely_pathogenic | 0.8163 | pathogenic | -1.155 | Destabilizing | 0.982 | D | 0.734 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9502 | likely_pathogenic | 0.948 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| Y/N | 0.9791 | likely_pathogenic | 0.9787 | pathogenic | -3.14 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.658298853 | None | None | N |
| Y/P | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/Q | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -2.722 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| Y/R | 0.9952 | likely_pathogenic | 0.9957 | pathogenic | -2.291 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| Y/S | 0.992 | likely_pathogenic | 0.9915 | pathogenic | -3.446 | Highly Destabilizing | 0.999 | D | 0.786 | deleterious | D | 0.658298853 | None | None | N |
| Y/T | 0.9945 | likely_pathogenic | 0.9944 | pathogenic | -3.054 | Highly Destabilizing | 0.999 | D | 0.798 | deleterious | None | None | None | None | N |
| Y/V | 0.853 | likely_pathogenic | 0.8429 | pathogenic | -1.683 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | N |
| Y/W | 0.8585 | likely_pathogenic | 0.8506 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | 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.