Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29827 | 89704;89705;89706 | chr2:178553526;178553525;178553524 | chr2:179418253;179418252;179418251 |
| N2AB | 28186 | 84781;84782;84783 | chr2:178553526;178553525;178553524 | chr2:179418253;179418252;179418251 |
| N2A | 27259 | 82000;82001;82002 | chr2:178553526;178553525;178553524 | chr2:179418253;179418252;179418251 |
| N2B | 20762 | 62509;62510;62511 | chr2:178553526;178553525;178553524 | chr2:179418253;179418252;179418251 |
| Novex-1 | 20887 | 62884;62885;62886 | chr2:178553526;178553525;178553524 | chr2:179418253;179418252;179418251 |
| Novex-2 | 20954 | 63085;63086;63087 | chr2:178553526;178553525;178553524 | chr2:179418253;179418252;179418251 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs1432117509  |
None | 1.0 | N | 0.885 | 0.434 | 0.637480515553 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/H | rs1432117509 |
None | 1.0 | N | 0.885 | 0.434 | 0.637480515553 | gnomAD-4.0.0 | 1.85987E-06 | None | None | None | None | N | None | 2.67044E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47848E-07 | 0 | 0 |
| P/R | None | None | 1.0 | N | 0.926 | 0.488 | 0.59360226722 | gnomAD-4.0.0 | 6.84555E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99745E-07 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.881 | 0.273 | 0.302793454619 | gnomAD-4.0.0 | 6.8452E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51927E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs201620815 |
-0.8 | 1.0 | N | 0.88 | 0.248 | 0.441324992753 | gnomAD-2.1.1 | 2.25969E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.7401E-03 | None | 0 | 2.67E-05 | 0 |
| P/T | rs201620815 |
-0.8 | 1.0 | N | 0.88 | 0.248 | 0.441324992753 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 1.24224E-03 | 0 |
| P/T | rs201620815 |
-0.8 | 1.0 | N | 0.88 | 0.248 | 0.441324992753 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| P/T | rs201620815 |
-0.8 | 1.0 | N | 0.88 | 0.248 | 0.441324992753 | gnomAD-4.0.0 | 9.29844E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.30251E-04 | 1.52607E-05 | 1.4183E-03 | 1.60128E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0726 | likely_benign | 0.0802 | benign | -1.131 | Destabilizing | 0.999 | D | 0.846 | deleterious | N | 0.467339406 | None | None | N |
| P/C | 0.5319 | ambiguous | 0.6165 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/D | 0.6357 | likely_pathogenic | 0.7073 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/E | 0.3796 | ambiguous | 0.4458 | ambiguous | -1.066 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/F | 0.6291 | likely_pathogenic | 0.6956 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/G | 0.4096 | ambiguous | 0.4941 | ambiguous | -1.391 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/H | 0.3875 | ambiguous | 0.4522 | ambiguous | -0.996 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.510335545 | None | None | N |
| P/I | 0.3504 | ambiguous | 0.3959 | ambiguous | -0.54 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/K | 0.4259 | ambiguous | 0.4864 | ambiguous | -0.968 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/L | 0.1848 | likely_benign | 0.1978 | benign | -0.54 | Destabilizing | 1.0 | D | 0.909 | deleterious | N | 0.479100558 | None | None | N |
| P/M | 0.3415 | ambiguous | 0.3938 | ambiguous | -0.356 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/N | 0.4951 | ambiguous | 0.5785 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| P/Q | 0.2859 | likely_benign | 0.3439 | ambiguous | -0.828 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/R | 0.3365 | likely_benign | 0.3815 | ambiguous | -0.424 | Destabilizing | 1.0 | D | 0.926 | deleterious | N | 0.489255549 | None | None | N |
| P/S | 0.183 | likely_benign | 0.2306 | benign | -1.024 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.471529688 | None | None | N |
| P/T | 0.1498 | likely_benign | 0.1712 | benign | -0.968 | Destabilizing | 1.0 | D | 0.88 | deleterious | N | 0.4681491 | None | None | N |
| P/V | 0.2262 | likely_benign | 0.2628 | benign | -0.702 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| P/W | 0.7901 | likely_pathogenic | 0.8403 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/Y | 0.5769 | likely_pathogenic | 0.6537 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.925 | 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.