Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32866 | 98821;98822;98823 | chr2:178539469;178539468;178539467 | chr2:179404196;179404195;179404194 |
| N2AB | 31225 | 93898;93899;93900 | chr2:178539469;178539468;178539467 | chr2:179404196;179404195;179404194 |
| N2A | 30298 | 91117;91118;91119 | chr2:178539469;178539468;178539467 | chr2:179404196;179404195;179404194 |
| N2B | 23801 | 71626;71627;71628 | chr2:178539469;178539468;178539467 | chr2:179404196;179404195;179404194 |
| Novex-1 | 23926 | 72001;72002;72003 | chr2:178539469;178539468;178539467 | chr2:179404196;179404195;179404194 |
| Novex-2 | 23993 | 72202;72203;72204 | chr2:178539469;178539468;178539467 | chr2:179404196;179404195;179404194 |
| 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 | 0.887 | 0.928 | 0.928776056712 | 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 | 0.996 | likely_pathogenic | 0.9923 | pathogenic | -3.379 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/C | 0.942 | likely_pathogenic | 0.886 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.686865774 | None | None | N |
| Y/D | 0.9934 | likely_pathogenic | 0.9899 | pathogenic | -3.927 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.686865774 | None | None | N |
| Y/E | 0.9982 | likely_pathogenic | 0.9971 | pathogenic | -3.715 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/F | 0.3683 | ambiguous | 0.3198 | benign | -1.485 | Destabilizing | 0.999 | D | 0.741 | deleterious | D | 0.639777428 | None | None | N |
| Y/G | 0.9871 | likely_pathogenic | 0.9777 | pathogenic | -3.77 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/H | 0.9765 | likely_pathogenic | 0.9571 | pathogenic | -2.55 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.686865774 | None | None | N |
| Y/I | 0.972 | likely_pathogenic | 0.9563 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| Y/K | 0.9986 | likely_pathogenic | 0.9977 | pathogenic | -2.653 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/L | 0.9674 | likely_pathogenic | 0.951 | pathogenic | -2.044 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| Y/M | 0.9852 | likely_pathogenic | 0.9744 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/N | 0.9557 | likely_pathogenic | 0.9283 | pathogenic | -3.509 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.686663969 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| Y/Q | 0.9978 | likely_pathogenic | 0.9957 | pathogenic | -3.227 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/R | 0.9965 | likely_pathogenic | 0.9943 | pathogenic | -2.451 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/S | 0.9847 | likely_pathogenic | 0.9722 | pathogenic | -3.737 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.686865774 | None | None | N |
| Y/T | 0.9935 | likely_pathogenic | 0.9878 | pathogenic | -3.411 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/V | 0.9507 | likely_pathogenic | 0.9264 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| Y/W | 0.8828 | likely_pathogenic | 0.8602 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.803 | 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.