Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18562 | 55909;55910;55911 | chr2:178601313;178601312;178601311 | chr2:179466040;179466039;179466038 |
| N2AB | 16921 | 50986;50987;50988 | chr2:178601313;178601312;178601311 | chr2:179466040;179466039;179466038 |
| N2A | 15994 | 48205;48206;48207 | chr2:178601313;178601312;178601311 | chr2:179466040;179466039;179466038 |
| N2B | 9497 | 28714;28715;28716 | chr2:178601313;178601312;178601311 | chr2:179466040;179466039;179466038 |
| Novex-1 | 9622 | 29089;29090;29091 | chr2:178601313;178601312;178601311 | chr2:179466040;179466039;179466038 |
| Novex-2 | 9689 | 29290;29291;29292 | chr2:178601313;178601312;178601311 | chr2:179466040;179466039;179466038 |
| 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/D | None | None | 1.0 | D | 0.868 | 0.759 | 0.528614029291 | gnomAD-4.0.0 | 1.37787E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80884E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8325 | likely_pathogenic | 0.8046 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.533004109 | None | None | N |
| G/C | 0.97 | likely_pathogenic | 0.9672 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.552122322 | None | None | N |
| G/D | 0.9959 | likely_pathogenic | 0.9959 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.540094454 | None | None | N |
| G/E | 0.9971 | likely_pathogenic | 0.9969 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/F | 0.9957 | likely_pathogenic | 0.9954 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/H | 0.9972 | likely_pathogenic | 0.9972 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/I | 0.9951 | likely_pathogenic | 0.9944 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/K | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/L | 0.9921 | likely_pathogenic | 0.991 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/M | 0.9971 | likely_pathogenic | 0.9968 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/N | 0.9945 | likely_pathogenic | 0.9948 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/P | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/Q | 0.9968 | likely_pathogenic | 0.9968 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/R | 0.9968 | likely_pathogenic | 0.9967 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.52772419 | None | None | N |
| G/S | 0.674 | likely_pathogenic | 0.6443 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.49411158 | None | None | N |
| G/T | 0.9734 | likely_pathogenic | 0.9662 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/V | 0.9915 | likely_pathogenic | 0.9891 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.551615343 | None | None | N |
| G/W | 0.9955 | likely_pathogenic | 0.9953 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/Y | 0.9966 | likely_pathogenic | 0.9965 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.865 | 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.