Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15467 | 46624;46625;46626 | chr2:178620018;178620017;178620016 | chr2:179484745;179484744;179484743 |
| N2AB | 13826 | 41701;41702;41703 | chr2:178620018;178620017;178620016 | chr2:179484745;179484744;179484743 |
| N2A | 12899 | 38920;38921;38922 | chr2:178620018;178620017;178620016 | chr2:179484745;179484744;179484743 |
| N2B | 6402 | 19429;19430;19431 | chr2:178620018;178620017;178620016 | chr2:179484745;179484744;179484743 |
| Novex-1 | 6527 | 19804;19805;19806 | chr2:178620018;178620017;178620016 | chr2:179484745;179484744;179484743 |
| Novex-2 | 6594 | 20005;20006;20007 | chr2:178620018;178620017;178620016 | chr2:179484745;179484744;179484743 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | rs1467418331  |
-1.749 | 0.92 | N | 0.385 | 0.275 | 0.280987212366 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 1.16686E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/S | rs1467418331 |
-1.749 | 0.92 | N | 0.385 | 0.275 | 0.280987212366 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/S | rs1467418331 |
-1.749 | 0.92 | N | 0.385 | 0.275 | 0.280987212366 | gnomAD-4.0.0 | 4.3438E-06 | None | None | None | None | N | None | 0 | 6.69098E-05 | None | 0 | 0 | None | 0 | 0 | 2.54518E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.6288 | likely_pathogenic | 0.6766 | pathogenic | -0.626 | Destabilizing | 0.863 | D | 0.392 | neutral | None | None | None | None | N |
| R/C | 0.4353 | ambiguous | 0.4468 | ambiguous | -0.578 | Destabilizing | 0.999 | D | 0.529 | neutral | None | None | None | None | N |
| R/D | 0.8239 | likely_pathogenic | 0.8414 | pathogenic | 0.007 | Stabilizing | 0.969 | D | 0.437 | neutral | None | None | None | None | N |
| R/E | 0.5247 | ambiguous | 0.5402 | ambiguous | 0.166 | Stabilizing | 0.863 | D | 0.407 | neutral | None | None | None | None | N |
| R/F | 0.8142 | likely_pathogenic | 0.8349 | pathogenic | -0.319 | Destabilizing | 0.997 | D | 0.503 | neutral | None | None | None | None | N |
| R/G | 0.4558 | ambiguous | 0.4932 | ambiguous | -0.965 | Destabilizing | 0.959 | D | 0.444 | neutral | N | 0.484499134 | None | None | N |
| R/H | 0.2037 | likely_benign | 0.2209 | benign | -1.374 | Destabilizing | 0.997 | D | 0.381 | neutral | None | None | None | None | N |
| R/I | 0.4619 | ambiguous | 0.4879 | ambiguous | 0.289 | Stabilizing | 0.997 | D | 0.503 | neutral | None | None | None | None | N |
| R/K | 0.1108 | likely_benign | 0.122 | benign | -0.48 | Destabilizing | 0.021 | N | 0.112 | neutral | N | 0.400410194 | None | None | N |
| R/L | 0.4725 | ambiguous | 0.496 | ambiguous | 0.289 | Stabilizing | 0.969 | D | 0.444 | neutral | None | None | None | None | N |
| R/M | 0.4976 | ambiguous | 0.522 | ambiguous | -0.235 | Destabilizing | 0.996 | D | 0.381 | neutral | N | 0.512062491 | None | None | N |
| R/N | 0.73 | likely_pathogenic | 0.7566 | pathogenic | -0.189 | Destabilizing | 0.969 | D | 0.369 | neutral | None | None | None | None | N |
| R/P | 0.9359 | likely_pathogenic | 0.9578 | pathogenic | 0.005 | Stabilizing | 0.997 | D | 0.436 | neutral | None | None | None | None | N |
| R/Q | 0.1457 | likely_benign | 0.1571 | benign | -0.213 | Destabilizing | 0.939 | D | 0.432 | neutral | None | None | None | None | N |
| R/S | 0.7076 | likely_pathogenic | 0.7406 | pathogenic | -0.864 | Destabilizing | 0.92 | D | 0.385 | neutral | N | 0.460778462 | None | None | N |
| R/T | 0.4433 | ambiguous | 0.466 | ambiguous | -0.503 | Destabilizing | 0.959 | D | 0.365 | neutral | N | 0.498679694 | None | None | N |
| R/V | 0.5441 | ambiguous | 0.5904 | pathogenic | 0.005 | Stabilizing | 0.991 | D | 0.459 | neutral | None | None | None | None | N |
| R/W | 0.4718 | ambiguous | 0.4589 | ambiguous | -0.038 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.513609025 | None | None | N |
| R/Y | 0.7034 | likely_pathogenic | 0.7208 | pathogenic | 0.251 | Stabilizing | 0.997 | D | 0.475 | neutral | 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.