Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26414 | 79465;79466;79467 | chr2:178566892;178566891;178566890 | chr2:179431619;179431618;179431617 |
| N2AB | 24773 | 74542;74543;74544 | chr2:178566892;178566891;178566890 | chr2:179431619;179431618;179431617 |
| N2A | 23846 | 71761;71762;71763 | chr2:178566892;178566891;178566890 | chr2:179431619;179431618;179431617 |
| N2B | 17349 | 52270;52271;52272 | chr2:178566892;178566891;178566890 | chr2:179431619;179431618;179431617 |
| Novex-1 | 17474 | 52645;52646;52647 | chr2:178566892;178566891;178566890 | chr2:179431619;179431618;179431617 |
| Novex-2 | 17541 | 52846;52847;52848 | chr2:178566892;178566891;178566890 | chr2:179431619;179431618;179431617 |
| 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/C | None | None | 1.0 | D | 0.827 | 0.725 | 0.686737365345 | gnomAD-4.0.0 | 6.84291E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99546E-07 | 0 | 0 |
| G/D | rs867960496  |
-0.173 | 1.0 | N | 0.83 | 0.702 | 0.40749426699 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 6.49E-05 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs867960496 |
-0.173 | 1.0 | N | 0.83 | 0.702 | 0.40749426699 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs867960496 |
-0.173 | 1.0 | N | 0.83 | 0.702 | 0.40749426699 | gnomAD-4.0.0 | 8.97022E-06 | None | None | None | None | I | None | 8.46253E-05 | 0 | None | 0 | 2.4273E-05 | None | 0 | 0 | 0 | 0 | 2.84576E-05 |
| G/S | rs1349007720 |
-0.085 | 1.0 | D | 0.809 | 0.584 | 0.393775345888 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/S | rs1349007720 |
-0.085 | 1.0 | D | 0.809 | 0.584 | 0.393775345888 | gnomAD-4.0.0 | 6.84291E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99546E-07 | 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 | 0.9549 | likely_pathogenic | 0.9246 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.524680818 | None | None | I |
| G/C | 0.9882 | likely_pathogenic | 0.9823 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.544052521 | None | None | I |
| G/D | 0.9967 | likely_pathogenic | 0.9943 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.513880717 | None | None | I |
| G/E | 0.9977 | likely_pathogenic | 0.9957 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/F | 0.9984 | likely_pathogenic | 0.9973 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/H | 0.9982 | likely_pathogenic | 0.9968 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/I | 0.9984 | likely_pathogenic | 0.9973 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/K | 0.998 | likely_pathogenic | 0.9965 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/L | 0.9976 | likely_pathogenic | 0.9957 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/M | 0.9989 | likely_pathogenic | 0.998 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/N | 0.9946 | likely_pathogenic | 0.9915 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/Q | 0.9973 | likely_pathogenic | 0.9949 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/R | 0.9927 | likely_pathogenic | 0.9871 | pathogenic | -0.067 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.507057089 | None | None | I |
| G/S | 0.937 | likely_pathogenic | 0.9091 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.526629374 | None | None | I |
| G/T | 0.9935 | likely_pathogenic | 0.989 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/V | 0.9966 | likely_pathogenic | 0.9944 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.528657291 | None | None | I |
| G/W | 0.9971 | likely_pathogenic | 0.9949 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/Y | 0.9977 | likely_pathogenic | 0.9958 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.823 | 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.