Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20892 | 62899;62900;62901 | chr2:178589051;178589050;178589049 | chr2:179453778;179453777;179453776 |
| N2AB | 19251 | 57976;57977;57978 | chr2:178589051;178589050;178589049 | chr2:179453778;179453777;179453776 |
| N2A | 18324 | 55195;55196;55197 | chr2:178589051;178589050;178589049 | chr2:179453778;179453777;179453776 |
| N2B | 11827 | 35704;35705;35706 | chr2:178589051;178589050;178589049 | chr2:179453778;179453777;179453776 |
| Novex-1 | 11952 | 36079;36080;36081 | chr2:178589051;178589050;178589049 | chr2:179453778;179453777;179453776 |
| Novex-2 | 12019 | 36280;36281;36282 | chr2:178589051;178589050;178589049 | chr2:179453778;179453777;179453776 |
| 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 | rs777144646  |
-0.4 | 1.0 | N | 0.807 | 0.475 | 0.453401982733 | gnomAD-2.1.1 | 8.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| G/S | rs777144646 |
-0.4 | 1.0 | N | 0.807 | 0.475 | 0.453401982733 | gnomAD-4.0.0 | 6.8622E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73491E-04 | 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 | 0.9754 | likely_pathogenic | 0.9661 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.519782974 | None | None | I |
| G/C | 0.995 | likely_pathogenic | 0.9934 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.538990092 | None | None | I |
| G/D | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.506741147 | None | None | I |
| G/E | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/F | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/H | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/I | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/K | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/L | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/M | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/N | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/Q | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/R | 0.9956 | likely_pathogenic | 0.9945 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.485295984 | None | None | I |
| G/S | 0.9766 | likely_pathogenic | 0.9695 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.509957151 | None | None | I |
| G/T | 0.9973 | likely_pathogenic | 0.9963 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/V | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.527126808 | None | None | I |
| G/W | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Y | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.799 | 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.