Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23648 | 71167;71168;71169 | chr2:178575190;178575189;178575188 | chr2:179439917;179439916;179439915 |
| N2AB | 22007 | 66244;66245;66246 | chr2:178575190;178575189;178575188 | chr2:179439917;179439916;179439915 |
| N2A | 21080 | 63463;63464;63465 | chr2:178575190;178575189;178575188 | chr2:179439917;179439916;179439915 |
| N2B | 14583 | 43972;43973;43974 | chr2:178575190;178575189;178575188 | chr2:179439917;179439916;179439915 |
| Novex-1 | 14708 | 44347;44348;44349 | chr2:178575190;178575189;178575188 | chr2:179439917;179439916;179439915 |
| Novex-2 | 14775 | 44548;44549;44550 | chr2:178575190;178575189;178575188 | chr2:179439917;179439916;179439915 |
| 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 | rs1709611603  |
None | 1.0 | D | 0.857 | 0.927 | 0.616551729481 | gnomAD-4.0.0 | 1.59384E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86149E-06 | 0 | 0 |
| G/V | rs1226411676 |
-0.384 | 1.0 | D | 0.85 | 0.897 | 0.811166881841 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| G/V | rs1226411676 |
-0.384 | 1.0 | D | 0.85 | 0.897 | 0.811166881841 | gnomAD-4.0.0 | 4.10804E-06 | None | None | None | None | N | None | 0 | 2.24075E-05 | None | 0 | 0 | None | 0 | 1.73551E-04 | 3.59908E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5123 | ambiguous | 0.5556 | ambiguous | -0.428 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.614771546 | None | None | N |
| G/C | 0.6285 | likely_pathogenic | 0.6477 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.64091507 | None | None | N |
| G/D | 0.6542 | likely_pathogenic | 0.6667 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.590404976 | None | None | N |
| G/E | 0.6892 | likely_pathogenic | 0.704 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/F | 0.9225 | likely_pathogenic | 0.9394 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/H | 0.6875 | likely_pathogenic | 0.727 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/I | 0.9362 | likely_pathogenic | 0.9501 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/K | 0.6229 | likely_pathogenic | 0.6478 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/L | 0.8702 | likely_pathogenic | 0.8985 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/M | 0.8732 | likely_pathogenic | 0.8996 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/N | 0.5402 | ambiguous | 0.5758 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/P | 0.9899 | likely_pathogenic | 0.992 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| G/Q | 0.5989 | likely_pathogenic | 0.635 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/R | 0.4964 | ambiguous | 0.5276 | ambiguous | -0.355 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.603132953 | None | None | N |
| G/S | 0.2789 | likely_benign | 0.3036 | benign | -0.58 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.640107853 | None | None | N |
| G/T | 0.6014 | likely_pathogenic | 0.6487 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/V | 0.8707 | likely_pathogenic | 0.8932 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.640713266 | None | None | N |
| G/W | 0.812 | likely_pathogenic | 0.8386 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/Y | 0.8604 | likely_pathogenic | 0.883 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.855 | 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.