Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27701 | 83326;83327;83328 | chr2:178563031;178563030;178563029 | chr2:179427758;179427757;179427756 |
| N2AB | 26060 | 78403;78404;78405 | chr2:178563031;178563030;178563029 | chr2:179427758;179427757;179427756 |
| N2A | 25133 | 75622;75623;75624 | chr2:178563031;178563030;178563029 | chr2:179427758;179427757;179427756 |
| N2B | 18636 | 56131;56132;56133 | chr2:178563031;178563030;178563029 | chr2:179427758;179427757;179427756 |
| Novex-1 | 18761 | 56506;56507;56508 | chr2:178563031;178563030;178563029 | chr2:179427758;179427757;179427756 |
| Novex-2 | 18828 | 56707;56708;56709 | chr2:178563031;178563030;178563029 | chr2:179427758;179427757;179427756 |
| 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 | rs1559314882  |
None | 1.0 | D | 0.826 | 0.695 | 0.643145293332 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/S | rs1559314882 |
None | 1.0 | D | 0.826 | 0.695 | 0.643145293332 | gnomAD-4.0.0 | 4.77453E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57677E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8428 | likely_pathogenic | 0.8761 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.594110686 | None | None | N |
| G/C | 0.9787 | likely_pathogenic | 0.9841 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.653937727 | None | None | N |
| G/D | 0.9953 | likely_pathogenic | 0.9963 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.652726902 | None | None | N |
| G/E | 0.997 | likely_pathogenic | 0.9979 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/F | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/H | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/I | 0.996 | likely_pathogenic | 0.9972 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/K | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/L | 0.9961 | likely_pathogenic | 0.9972 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/M | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/N | 0.9972 | likely_pathogenic | 0.9978 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/Q | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/R | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.653534119 | None | None | N |
| G/S | 0.9357 | likely_pathogenic | 0.9465 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.615550197 | None | None | N |
| G/T | 0.9906 | likely_pathogenic | 0.9927 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/V | 0.988 | likely_pathogenic | 0.9917 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.653534119 | None | None | N |
| G/W | 0.9968 | likely_pathogenic | 0.9976 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.757 | 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.