Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24151 | 72676;72677;72678 | chr2:178573681;178573680;178573679 | chr2:179438408;179438407;179438406 |
| N2AB | 22510 | 67753;67754;67755 | chr2:178573681;178573680;178573679 | chr2:179438408;179438407;179438406 |
| N2A | 21583 | 64972;64973;64974 | chr2:178573681;178573680;178573679 | chr2:179438408;179438407;179438406 |
| N2B | 15086 | 45481;45482;45483 | chr2:178573681;178573680;178573679 | chr2:179438408;179438407;179438406 |
| Novex-1 | 15211 | 45856;45857;45858 | chr2:178573681;178573680;178573679 | chr2:179438408;179438407;179438406 |
| Novex-2 | 15278 | 46057;46058;46059 | chr2:178573681;178573680;178573679 | chr2:179438408;179438407;179438406 |
| 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/E | None | None | 1.0 | D | 0.866 | 0.525 | 0.457013227636 | gnomAD-4.0.0 | 1.46305E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.8797E-04 | 0 | 1.45218E-05 | 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 | 0.9391 | likely_pathogenic | 0.9452 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.521757984 | None | None | I |
| G/C | 0.9789 | likely_pathogenic | 0.9846 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/D | 0.9967 | likely_pathogenic | 0.9975 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/E | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.53712676 | None | None | I |
| G/F | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.9976 | likely_pathogenic | 0.9983 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/I | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/K | 0.9967 | likely_pathogenic | 0.9979 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/L | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/M | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/N | 0.9968 | likely_pathogenic | 0.9976 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/Q | 0.9967 | likely_pathogenic | 0.9975 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/R | 0.9868 | likely_pathogenic | 0.9906 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.509160684 | None | None | I |
| G/S | 0.931 | likely_pathogenic | 0.9468 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/T | 0.9919 | likely_pathogenic | 0.9941 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/V | 0.9951 | likely_pathogenic | 0.9957 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.530253907 | None | None | I |
| G/W | 0.9959 | likely_pathogenic | 0.9967 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Y | 0.9975 | likely_pathogenic | 0.998 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.811 | 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.