Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21060 | 63403;63404;63405 | chr2:178588547;178588546;178588545 | chr2:179453274;179453273;179453272 |
| N2AB | 19419 | 58480;58481;58482 | chr2:178588547;178588546;178588545 | chr2:179453274;179453273;179453272 |
| N2A | 18492 | 55699;55700;55701 | chr2:178588547;178588546;178588545 | chr2:179453274;179453273;179453272 |
| N2B | 11995 | 36208;36209;36210 | chr2:178588547;178588546;178588545 | chr2:179453274;179453273;179453272 |
| Novex-1 | 12120 | 36583;36584;36585 | chr2:178588547;178588546;178588545 | chr2:179453274;179453273;179453272 |
| Novex-2 | 12187 | 36784;36785;36786 | chr2:178588547;178588546;178588545 | chr2:179453274;179453273;179453272 |
| 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/E | rs778030754  |
0.085 | 0.999 | N | 0.529 | 0.145 | 0.240491677333 | gnomAD-2.1.1 | 5.57E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.15E-05 | 0 |
| D/G | None | None | 1.0 | N | 0.825 | 0.342 | 0.346544149963 | gnomAD-4.0.0 | 7.2868E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.3289E-07 | 0 | 0 |
| D/H | None | None | 1.0 | N | 0.894 | 0.379 | 0.391156786388 | gnomAD-4.0.0 | 1.85125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.21982E-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 | 0.7762 | likely_pathogenic | 0.67 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.49061741 | None | None | N |
| D/C | 0.9735 | likely_pathogenic | 0.9477 | pathogenic | -0.015 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/E | 0.6755 | likely_pathogenic | 0.5484 | ambiguous | -0.308 | Destabilizing | 0.999 | D | 0.529 | neutral | N | 0.459083782 | None | None | N |
| D/F | 0.9439 | likely_pathogenic | 0.9154 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| D/G | 0.8693 | likely_pathogenic | 0.7642 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.467717799 | None | None | N |
| D/H | 0.8903 | likely_pathogenic | 0.8128 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.894 | deleterious | N | 0.47644444 | None | None | N |
| D/I | 0.9138 | likely_pathogenic | 0.8438 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/K | 0.9545 | likely_pathogenic | 0.909 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/L | 0.8742 | likely_pathogenic | 0.8026 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/M | 0.9597 | likely_pathogenic | 0.933 | pathogenic | 0.203 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/N | 0.4229 | ambiguous | 0.3325 | benign | 0.041 | Stabilizing | 1.0 | D | 0.824 | deleterious | N | 0.501239835 | None | None | N |
| D/P | 0.9425 | likely_pathogenic | 0.8861 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| D/Q | 0.9312 | likely_pathogenic | 0.8684 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| D/R | 0.9665 | likely_pathogenic | 0.9324 | pathogenic | 0.475 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| D/S | 0.669 | likely_pathogenic | 0.5461 | ambiguous | -0.06 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/T | 0.8866 | likely_pathogenic | 0.7997 | pathogenic | 0.069 | Stabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| D/V | 0.8283 | likely_pathogenic | 0.7192 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.818 | deleterious | N | 0.496372347 | None | None | N |
| D/W | 0.987 | likely_pathogenic | 0.9802 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/Y | 0.7063 | likely_pathogenic | 0.5876 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.834 | deleterious | N | 0.483041032 | 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.