Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21889 | 65890;65891;65892 | chr2:178583138;178583137;178583136 | chr2:179447865;179447864;179447863 |
| N2AB | 20248 | 60967;60968;60969 | chr2:178583138;178583137;178583136 | chr2:179447865;179447864;179447863 |
| N2A | 19321 | 58186;58187;58188 | chr2:178583138;178583137;178583136 | chr2:179447865;179447864;179447863 |
| N2B | 12824 | 38695;38696;38697 | chr2:178583138;178583137;178583136 | chr2:179447865;179447864;179447863 |
| Novex-1 | 12949 | 39070;39071;39072 | chr2:178583138;178583137;178583136 | chr2:179447865;179447864;179447863 |
| Novex-2 | 13016 | 39271;39272;39273 | chr2:178583138;178583137;178583136 | chr2:179447865;179447864;179447863 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | None | None | 1.0 | D | 0.805 | 0.718 | 0.637732811552 | gnomAD-4.0.0 | 6.84933E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00061E-07 | 0 | 0 |
| G/V | rs188110701  |
-0.179 | 1.0 | D | 0.807 | 0.746 | None | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs188110701 |
-0.179 | 1.0 | D | 0.807 | 0.746 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs188110701 |
-0.179 | 1.0 | D | 0.807 | 0.746 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9273 | likely_pathogenic | 0.9261 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.542802298 | None | None | N |
| G/C | 0.9793 | likely_pathogenic | 0.9808 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.635132391 | None | None | N |
| G/D | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.617670039 | None | None | N |
| G/E | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/F | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/I | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/L | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/M | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/N | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/Q | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/R | 0.9949 | likely_pathogenic | 0.9959 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.634728782 | None | None | N |
| G/S | 0.9408 | likely_pathogenic | 0.9449 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.572831901 | None | None | N |
| G/T | 0.9953 | likely_pathogenic | 0.995 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/V | 0.995 | likely_pathogenic | 0.9953 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.60919067 | None | None | N |
| G/W | 0.9961 | likely_pathogenic | 0.9971 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.789 | 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.