Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2246 | 6961;6962;6963 | chr2:178774975;178774974;178774973 | chr2:179639702;179639701;179639700 |
| N2AB | 2246 | 6961;6962;6963 | chr2:178774975;178774974;178774973 | chr2:179639702;179639701;179639700 |
| N2A | 2246 | 6961;6962;6963 | chr2:178774975;178774974;178774973 | chr2:179639702;179639701;179639700 |
| N2B | 2200 | 6823;6824;6825 | chr2:178774975;178774974;178774973 | chr2:179639702;179639701;179639700 |
| Novex-1 | 2200 | 6823;6824;6825 | chr2:178774975;178774974;178774973 | chr2:179639702;179639701;179639700 |
| Novex-2 | 2200 | 6823;6824;6825 | chr2:178774975;178774974;178774973 | chr2:179639702;179639701;179639700 |
| Novex-3 | 2246 | 6961;6962;6963 | chr2:178774975;178774974;178774973 | chr2:179639702;179639701;179639700 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs1484766954  |
None | 1.0 | D | 0.915 | 0.627 | 0.731798775535 | gnomAD-2.1.1 | 3.98E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| C/G | rs1484766954 |
None | 1.0 | D | 0.915 | 0.627 | 0.731798775535 | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/G | rs1484766954 |
None | 1.0 | D | 0.915 | 0.627 | 0.731798775535 | gnomAD-4.0.0 | 3.84249E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17652E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9588 | likely_pathogenic | 0.9636 | pathogenic | -1.031 | Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | disulfide | None | N |
| C/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9654 | likely_pathogenic | 0.9702 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.915 | deleterious | N | 0.443284115 | disulfide | None | N |
| C/G | 0.9524 | likely_pathogenic | 0.9594 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.599152817 | disulfide | None | N |
| C/H | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/I | 0.978 | likely_pathogenic | 0.9815 | pathogenic | 0.004 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9489 | likely_pathogenic | 0.9532 | pathogenic | 0.004 | Stabilizing | 0.999 | D | 0.81 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9871 | likely_pathogenic | 0.9885 | pathogenic | 0.548 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.935 | deleterious | D | 0.599152817 | disulfide | None | N |
| C/S | 0.9882 | likely_pathogenic | 0.9905 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.599152817 | disulfide | None | N |
| C/T | 0.992 | likely_pathogenic | 0.9933 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | disulfide | None | N |
| C/V | 0.9406 | likely_pathogenic | 0.9488 | pathogenic | -0.319 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.599152817 | disulfide | None | N |
| C/Y | 0.9959 | likely_pathogenic | 0.9968 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.931 | deleterious | D | 0.562442227 | disulfide | 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.