Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2158 | 6697;6698;6699 | chr2:178775392;178775391;178775390 | chr2:179640119;179640118;179640117 |
| N2AB | 2158 | 6697;6698;6699 | chr2:178775392;178775391;178775390 | chr2:179640119;179640118;179640117 |
| N2A | 2158 | 6697;6698;6699 | chr2:178775392;178775391;178775390 | chr2:179640119;179640118;179640117 |
| N2B | 2112 | 6559;6560;6561 | chr2:178775392;178775391;178775390 | chr2:179640119;179640118;179640117 |
| Novex-1 | 2112 | 6559;6560;6561 | chr2:178775392;178775391;178775390 | chr2:179640119;179640118;179640117 |
| Novex-2 | 2112 | 6559;6560;6561 | chr2:178775392;178775391;178775390 | chr2:179640119;179640118;179640117 |
| Novex-3 | 2158 | 6697;6698;6699 | chr2:178775392;178775391;178775390 | chr2:179640119;179640118;179640117 |
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/A | None | None | 1.0 | D | 0.751 | 0.85 | 0.579040693538 | gnomAD-4.0.0 | 1.32035E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44375E-05 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.869 | 0.851 | 0.771111349424 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9276 | likely_pathogenic | 0.9065 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.717062342 | None | None | N |
| G/C | 0.9916 | likely_pathogenic | 0.9879 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/D | 0.9944 | likely_pathogenic | 0.9923 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/E | 0.9951 | likely_pathogenic | 0.993 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.737689784 | None | None | N |
| G/F | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/H | 0.9985 | likely_pathogenic | 0.9979 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/I | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/K | 0.997 | likely_pathogenic | 0.9957 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/L | 0.9977 | likely_pathogenic | 0.9968 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/M | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/N | 0.9945 | likely_pathogenic | 0.9922 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Q | 0.9948 | likely_pathogenic | 0.9925 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/R | 0.9915 | likely_pathogenic | 0.9875 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.678288876 | None | None | N |
| G/S | 0.9217 | likely_pathogenic | 0.8964 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/T | 0.9896 | likely_pathogenic | 0.9856 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/V | 0.9964 | likely_pathogenic | 0.9943 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.772497099 | None | None | N |
| G/W | 0.9976 | likely_pathogenic | 0.9967 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Y | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.843 | 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.