Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17149 | 51670;51671;51672 | chr2:178609978;178609977;178609976 | chr2:179474705;179474704;179474703 |
| N2AB | 15508 | 46747;46748;46749 | chr2:178609978;178609977;178609976 | chr2:179474705;179474704;179474703 |
| N2A | 14581 | 43966;43967;43968 | chr2:178609978;178609977;178609976 | chr2:179474705;179474704;179474703 |
| N2B | 8084 | 24475;24476;24477 | chr2:178609978;178609977;178609976 | chr2:179474705;179474704;179474703 |
| Novex-1 | 8209 | 24850;24851;24852 | chr2:178609978;178609977;178609976 | chr2:179474705;179474704;179474703 |
| Novex-2 | 8276 | 25051;25052;25053 | chr2:178609978;178609977;178609976 | chr2:179474705;179474704;179474703 |
| 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/G | rs2055912610  |
None | 1.0 | N | 0.803 | 0.511 | 0.351180957027 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs2055912610 |
None | 1.0 | N | 0.803 | 0.511 | 0.351180957027 | gnomAD-4.0.0 | 6.58267E-06 | None | None | None | None | N | None | 0 | 6.56254E-05 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6683 | likely_pathogenic | 0.5437 | ambiguous | -0.527 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.470065338 | None | None | N |
| D/C | 0.9635 | likely_pathogenic | 0.9361 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/E | 0.6569 | likely_pathogenic | 0.5399 | ambiguous | -0.682 | Destabilizing | 1.0 | D | 0.62 | neutral | N | 0.470318828 | None | None | N |
| D/F | 0.9469 | likely_pathogenic | 0.9006 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/G | 0.7329 | likely_pathogenic | 0.6224 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.441290242 | None | None | N |
| D/H | 0.9083 | likely_pathogenic | 0.8358 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.50444065 | None | None | N |
| D/I | 0.9545 | likely_pathogenic | 0.895 | pathogenic | 0.414 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/K | 0.9579 | likely_pathogenic | 0.9152 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/L | 0.8537 | likely_pathogenic | 0.7527 | pathogenic | 0.414 | Stabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| D/M | 0.9538 | likely_pathogenic | 0.9126 | pathogenic | 0.808 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/N | 0.5643 | likely_pathogenic | 0.4183 | ambiguous | -0.884 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.469193192 | None | None | N |
| D/P | 0.9923 | likely_pathogenic | 0.9843 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| D/Q | 0.9091 | likely_pathogenic | 0.8468 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/R | 0.9626 | likely_pathogenic | 0.9266 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/S | 0.5399 | ambiguous | 0.4127 | ambiguous | -1.16 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/T | 0.8845 | likely_pathogenic | 0.7931 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/V | 0.8897 | likely_pathogenic | 0.7773 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.839 | deleterious | N | 0.485829416 | None | None | N |
| D/W | 0.9929 | likely_pathogenic | 0.9863 | pathogenic | -0.022 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| D/Y | 0.8116 | likely_pathogenic | 0.693 | pathogenic | 0.062 | Stabilizing | 1.0 | D | 0.847 | deleterious | N | 0.486082906 | 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.