Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29906 | 89941;89942;89943 | chr2:178553184;178553183;178553182 | chr2:179417911;179417910;179417909 |
| N2AB | 28265 | 85018;85019;85020 | chr2:178553184;178553183;178553182 | chr2:179417911;179417910;179417909 |
| N2A | 27338 | 82237;82238;82239 | chr2:178553184;178553183;178553182 | chr2:179417911;179417910;179417909 |
| N2B | 20841 | 62746;62747;62748 | chr2:178553184;178553183;178553182 | chr2:179417911;179417910;179417909 |
| Novex-1 | 20966 | 63121;63122;63123 | chr2:178553184;178553183;178553182 | chr2:179417911;179417910;179417909 |
| Novex-2 | 21033 | 63322;63323;63324 | chr2:178553184;178553183;178553182 | chr2:179417911;179417910;179417909 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs770892973  |
-0.808 | 1.0 | D | 0.78 | 0.793 | 0.687474101776 | 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 |
| D/N | rs770892973 |
-0.808 | 1.0 | D | 0.78 | 0.793 | 0.687474101776 | gnomAD-4.0.0 | 4.78952E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29621E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9726 | likely_pathogenic | 0.9624 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.643175996 | None | None | N |
| D/C | 0.9874 | likely_pathogenic | 0.9798 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/E | 0.8987 | likely_pathogenic | 0.8126 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.579 | neutral | D | 0.625945809 | None | None | N |
| D/F | 0.9949 | likely_pathogenic | 0.994 | pathogenic | 0.238 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/G | 0.9761 | likely_pathogenic | 0.9723 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.652896551 | None | None | N |
| D/H | 0.9369 | likely_pathogenic | 0.9147 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.58344896 | None | None | N |
| D/I | 0.9939 | likely_pathogenic | 0.9897 | pathogenic | 1.056 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/K | 0.9908 | likely_pathogenic | 0.9868 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/L | 0.9924 | likely_pathogenic | 0.9896 | pathogenic | 1.056 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/M | 0.9946 | likely_pathogenic | 0.9916 | pathogenic | 1.603 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/N | 0.8441 | likely_pathogenic | 0.7534 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.60952284 | None | None | N |
| D/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | 0.682 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/Q | 0.9786 | likely_pathogenic | 0.9657 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/R | 0.9938 | likely_pathogenic | 0.9914 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/S | 0.9337 | likely_pathogenic | 0.9109 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/T | 0.9859 | likely_pathogenic | 0.9784 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/V | 0.985 | likely_pathogenic | 0.9754 | pathogenic | 0.682 | Stabilizing | 1.0 | D | 0.831 | deleterious | D | 0.66931952 | None | None | N |
| D/W | 0.9992 | likely_pathogenic | 0.999 | pathogenic | 0.238 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/Y | 0.964 | likely_pathogenic | 0.9546 | pathogenic | 0.462 | Stabilizing | 1.0 | D | 0.837 | deleterious | D | 0.653098355 | 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.