Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18300 | 55123;55124;55125 | chr2:178602504;178602503;178602502 | chr2:179467231;179467230;179467229 |
| N2AB | 16659 | 50200;50201;50202 | chr2:178602504;178602503;178602502 | chr2:179467231;179467230;179467229 |
| N2A | 15732 | 47419;47420;47421 | chr2:178602504;178602503;178602502 | chr2:179467231;179467230;179467229 |
| N2B | 9235 | 27928;27929;27930 | chr2:178602504;178602503;178602502 | chr2:179467231;179467230;179467229 |
| Novex-1 | 9360 | 28303;28304;28305 | chr2:178602504;178602503;178602502 | chr2:179467231;179467230;179467229 |
| Novex-2 | 9427 | 28504;28505;28506 | chr2:178602504;178602503;178602502 | chr2:179467231;179467230;179467229 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | None | None | 1.0 | N | 0.807 | 0.564 | 0.312608672186 | gnomAD-4.0.0 | 1.59914E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.80002E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7697 | likely_pathogenic | 0.9067 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.513254698 | None | None | I |
| G/C | 0.897 | likely_pathogenic | 0.9565 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.525878451 | None | None | I |
| G/D | 0.9678 | likely_pathogenic | 0.9838 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.503784497 | None | None | I |
| G/E | 0.9766 | likely_pathogenic | 0.9909 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/F | 0.9869 | likely_pathogenic | 0.9954 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/H | 0.9817 | likely_pathogenic | 0.9912 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/I | 0.983 | likely_pathogenic | 0.9952 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/K | 0.9842 | likely_pathogenic | 0.9922 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/L | 0.9847 | likely_pathogenic | 0.9937 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/M | 0.9869 | likely_pathogenic | 0.9958 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/N | 0.951 | likely_pathogenic | 0.974 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9991 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/Q | 0.9723 | likely_pathogenic | 0.9882 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/R | 0.942 | likely_pathogenic | 0.971 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.485021906 | None | None | I |
| G/S | 0.6676 | likely_pathogenic | 0.8364 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.492819812 | None | None | I |
| G/T | 0.9525 | likely_pathogenic | 0.983 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/V | 0.9705 | likely_pathogenic | 0.9909 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.519041597 | None | None | I |
| G/W | 0.9685 | likely_pathogenic | 0.9865 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/Y | 0.9776 | likely_pathogenic | 0.9902 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
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.