Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29420 | 88483;88484;88485 | chr2:178556896;178556895;178556894 | chr2:179421623;179421622;179421621 |
| N2AB | 27779 | 83560;83561;83562 | chr2:178556896;178556895;178556894 | chr2:179421623;179421622;179421621 |
| N2A | 26852 | 80779;80780;80781 | chr2:178556896;178556895;178556894 | chr2:179421623;179421622;179421621 |
| N2B | 20355 | 61288;61289;61290 | chr2:178556896;178556895;178556894 | chr2:179421623;179421622;179421621 |
| Novex-1 | 20480 | 61663;61664;61665 | chr2:178556896;178556895;178556894 | chr2:179421623;179421622;179421621 |
| Novex-2 | 20547 | 61864;61865;61866 | chr2:178556896;178556895;178556894 | chr2:179421623;179421622;179421621 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1415733680  |
None | 0.999 | D | 0.741 | 0.352 | 0.39619538035 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1415733680 |
None | 0.999 | D | 0.741 | 0.352 | 0.39619538035 | gnomAD-4.0.0 | 3.84324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17827E-06 | 0 | 0 |
| S/R | rs1312502975 |
None | 1.0 | D | 0.868 | 0.564 | 0.367992661779 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs1312502975 |
None | 1.0 | D | 0.868 | 0.564 | 0.367992661779 | gnomAD-4.0.0 | 3.84325E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1782E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6517 | likely_pathogenic | 0.5562 | ambiguous | -0.805 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| S/C | 0.831 | likely_pathogenic | 0.7343 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.550984146 | None | None | N |
| S/D | 0.9949 | likely_pathogenic | 0.9933 | pathogenic | -1.299 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| S/E | 0.9978 | likely_pathogenic | 0.997 | pathogenic | -1.198 | Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| S/F | 0.9978 | likely_pathogenic | 0.9957 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| S/G | 0.3301 | likely_benign | 0.3091 | benign | -1.143 | Destabilizing | 0.999 | D | 0.745 | deleterious | N | 0.465928648 | None | None | N |
| S/H | 0.9939 | likely_pathogenic | 0.9917 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| S/I | 0.9964 | likely_pathogenic | 0.9924 | pathogenic | 0.019 | Stabilizing | 1.0 | D | 0.926 | deleterious | D | 0.551237635 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.745 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| S/L | 0.9774 | likely_pathogenic | 0.9594 | pathogenic | 0.019 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| S/M | 0.9902 | likely_pathogenic | 0.9821 | pathogenic | 0.155 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| S/N | 0.9793 | likely_pathogenic | 0.9713 | pathogenic | -1.12 | Destabilizing | 0.999 | D | 0.741 | deleterious | D | 0.549970187 | None | None | N |
| S/P | 0.9924 | likely_pathogenic | 0.9855 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| S/Q | 0.9956 | likely_pathogenic | 0.9943 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| S/R | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.538867372 | None | None | N |
| S/T | 0.7931 | likely_pathogenic | 0.696 | pathogenic | -0.901 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | D | 0.538867372 | None | None | N |
| S/V | 0.9933 | likely_pathogenic | 0.986 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| S/W | 0.9969 | likely_pathogenic | 0.995 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| S/Y | 0.9958 | likely_pathogenic | 0.9931 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.929 | deleterious | 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.