Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25687 | 77284;77285;77286 | chr2:178569073;178569072;178569071 | chr2:179433800;179433799;179433798 |
| N2AB | 24046 | 72361;72362;72363 | chr2:178569073;178569072;178569071 | chr2:179433800;179433799;179433798 |
| N2A | 23119 | 69580;69581;69582 | chr2:178569073;178569072;178569071 | chr2:179433800;179433799;179433798 |
| N2B | 16622 | 50089;50090;50091 | chr2:178569073;178569072;178569071 | chr2:179433800;179433799;179433798 |
| Novex-1 | 16747 | 50464;50465;50466 | chr2:178569073;178569072;178569071 | chr2:179433800;179433799;179433798 |
| Novex-2 | 16814 | 50665;50666;50667 | chr2:178569073;178569072;178569071 | chr2:179433800;179433799;179433798 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1707146929  |
None | 0.967 | N | 0.54 | 0.306 | 0.202949470691 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| A/T | rs1707146929 |
None | 0.967 | N | 0.54 | 0.306 | 0.202949470691 | gnomAD-4.0.0 | 6.5767E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3724 | ambiguous | 0.3943 | ambiguous | -1.079 | Destabilizing | 0.499 | N | 0.376 | neutral | None | None | None | None | I |
| A/D | 0.6757 | likely_pathogenic | 0.7216 | pathogenic | -1.926 | Destabilizing | 0.988 | D | 0.647 | neutral | N | 0.483531103 | None | None | I |
| A/E | 0.5107 | ambiguous | 0.5643 | pathogenic | -1.904 | Destabilizing | 0.378 | N | 0.411 | neutral | None | None | None | None | I |
| A/F | 0.3891 | ambiguous | 0.455 | ambiguous | -1.05 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | I |
| A/G | 0.1874 | likely_benign | 0.2051 | benign | -1.474 | Destabilizing | 0.815 | D | 0.544 | neutral | N | 0.475769195 | None | None | I |
| A/H | 0.6779 | likely_pathogenic | 0.7219 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| A/I | 0.2002 | likely_benign | 0.2366 | benign | -0.423 | Destabilizing | 0.999 | D | 0.624 | neutral | None | None | None | None | I |
| A/K | 0.6984 | likely_pathogenic | 0.7498 | pathogenic | -1.523 | Destabilizing | 0.997 | D | 0.619 | neutral | None | None | None | None | I |
| A/L | 0.2316 | likely_benign | 0.269 | benign | -0.423 | Destabilizing | 0.991 | D | 0.596 | neutral | None | None | None | None | I |
| A/M | 0.2482 | likely_benign | 0.2816 | benign | -0.381 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| A/N | 0.4924 | ambiguous | 0.5493 | ambiguous | -1.328 | Destabilizing | 0.961 | D | 0.655 | neutral | None | None | None | None | I |
| A/P | 0.9258 | likely_pathogenic | 0.9384 | pathogenic | -0.628 | Destabilizing | 0.997 | D | 0.611 | neutral | N | 0.483024124 | None | None | I |
| A/Q | 0.4932 | ambiguous | 0.5327 | ambiguous | -1.433 | Destabilizing | 0.997 | D | 0.607 | neutral | None | None | None | None | I |
| A/R | 0.61 | likely_pathogenic | 0.6553 | pathogenic | -1.219 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | I |
| A/S | 0.1154 | likely_benign | 0.1185 | benign | -1.651 | Destabilizing | 0.77 | D | 0.535 | neutral | N | 0.407969023 | None | None | I |
| A/T | 0.095 | likely_benign | 0.1044 | benign | -1.542 | Destabilizing | 0.967 | D | 0.54 | neutral | N | 0.493366471 | None | None | I |
| A/V | 0.1021 | likely_benign | 0.1144 | benign | -0.628 | Destabilizing | 0.984 | D | 0.562 | neutral | N | 0.486403669 | None | None | I |
| A/W | 0.8752 | likely_pathogenic | 0.9005 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| A/Y | 0.6151 | likely_pathogenic | 0.6742 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
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.