Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4960 | 15103;15104;15105 | chr2:178735568;178735567;178735566 | chr2:179600295;179600294;179600293 |
| N2AB | 4643 | 14152;14153;14154 | chr2:178735568;178735567;178735566 | chr2:179600295;179600294;179600293 |
| N2A | 3716 | 11371;11372;11373 | chr2:178735568;178735567;178735566 | chr2:179600295;179600294;179600293 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs879004875  |
-2.37 | 1.0 | D | 0.879 | 0.74 | 0.882974859256 | gnomAD-2.1.1 | 8.11E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| C/G | rs879004875 |
-2.37 | 1.0 | D | 0.879 | 0.74 | 0.882974859256 | gnomAD-3.1.2 | 1.31E-05 | None | None | disulfide | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/G | rs879004875 |
-2.37 | 1.0 | D | 0.879 | 0.74 | 0.882974859256 | gnomAD-4.0.0 | 7.44486E-06 | None | None | disulfide | None | N | None | 1.33883E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32712E-06 | 0 | 0 |
| C/R | rs879004875 |
None | 1.0 | D | 0.904 | 0.72 | None | gnomAD-4.0.0 | 4.79572E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29878E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | D | 0.907 | 0.592 | 0.877724292498 | gnomAD-4.0.0 | 1.20032E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7452 | likely_pathogenic | 0.7742 | pathogenic | -1.73 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9976 | likely_pathogenic | 0.9982 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | disulfide | None | N |
| C/F | 0.6157 | likely_pathogenic | 0.6394 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.783200464 | disulfide | None | N |
| C/G | 0.5477 | ambiguous | 0.5955 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.785875614 | disulfide | None | N |
| C/H | 0.9893 | likely_pathogenic | 0.9913 | pathogenic | -2.256 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | disulfide | None | N |
| C/I | 0.7691 | likely_pathogenic | 0.7908 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | disulfide | None | N |
| C/L | 0.6575 | likely_pathogenic | 0.6576 | pathogenic | -0.805 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | disulfide | None | N |
| C/M | 0.8814 | likely_pathogenic | 0.8967 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9854 | likely_pathogenic | 0.9889 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9964 | likely_pathogenic | 0.9973 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9931 | likely_pathogenic | 0.9945 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9839 | likely_pathogenic | 0.986 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.785875614 | disulfide | None | N |
| C/S | 0.8453 | likely_pathogenic | 0.8719 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.785875614 | disulfide | None | N |
| C/T | 0.9236 | likely_pathogenic | 0.9393 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | disulfide | None | N |
| C/V | 0.6646 | likely_pathogenic | 0.6904 | pathogenic | -1.09 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9634 | likely_pathogenic | 0.9691 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.785875614 | disulfide | None | N |
| C/Y | 0.8897 | likely_pathogenic | 0.8992 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.785875614 | disulfide | 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.