Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31099 | 93520;93521;93522 | chr2:178548331;178548330;178548329 | chr2:179413058;179413057;179413056 |
| N2AB | 29458 | 88597;88598;88599 | chr2:178548331;178548330;178548329 | chr2:179413058;179413057;179413056 |
| N2A | 28531 | 85816;85817;85818 | chr2:178548331;178548330;178548329 | chr2:179413058;179413057;179413056 |
| N2B | 22034 | 66325;66326;66327 | chr2:178548331;178548330;178548329 | chr2:179413058;179413057;179413056 |
| Novex-1 | 22159 | 66700;66701;66702 | chr2:178548331;178548330;178548329 | chr2:179413058;179413057;179413056 |
| Novex-2 | 22226 | 66901;66902;66903 | chr2:178548331;178548330;178548329 | chr2:179413058;179413057;179413056 |
| 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 | rs2154147309  |
None | 1.0 | D | 0.798 | 0.303 | 0.176091768786 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7676 | likely_pathogenic | 0.8135 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.551931285 | None | None | N |
| G/C | 0.9552 | likely_pathogenic | 0.961 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.571049498 | None | None | N |
| G/D | 0.9913 | likely_pathogenic | 0.9922 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.559186213 | None | None | N |
| G/E | 0.9929 | likely_pathogenic | 0.9937 | pathogenic | -1.81 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/F | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/H | 0.9967 | likely_pathogenic | 0.9972 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/I | 0.9965 | likely_pathogenic | 0.9958 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/K | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| G/L | 0.9937 | likely_pathogenic | 0.9939 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/M | 0.9958 | likely_pathogenic | 0.996 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/N | 0.991 | likely_pathogenic | 0.9928 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/P | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/Q | 0.9942 | likely_pathogenic | 0.9951 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/R | 0.9932 | likely_pathogenic | 0.9939 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.569528561 | None | None | N |
| G/S | 0.6147 | likely_pathogenic | 0.632 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.529666948 | None | None | N |
| G/T | 0.957 | likely_pathogenic | 0.9567 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/V | 0.99 | likely_pathogenic | 0.9897 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.570542519 | None | None | N |
| G/W | 0.9937 | likely_pathogenic | 0.9936 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/Y | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.863 | 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.