Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17793 | 53602;53603;53604 | chr2:178607225;178607224;178607223 | chr2:179471952;179471951;179471950 |
| N2AB | 16152 | 48679;48680;48681 | chr2:178607225;178607224;178607223 | chr2:179471952;179471951;179471950 |
| N2A | 15225 | 45898;45899;45900 | chr2:178607225;178607224;178607223 | chr2:179471952;179471951;179471950 |
| N2B | 8728 | 26407;26408;26409 | chr2:178607225;178607224;178607223 | chr2:179471952;179471951;179471950 |
| Novex-1 | 8853 | 26782;26783;26784 | chr2:178607225;178607224;178607223 | chr2:179471952;179471951;179471950 |
| Novex-2 | 8920 | 26983;26984;26985 | chr2:178607225;178607224;178607223 | chr2:179471952;179471951;179471950 |
| 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/E | None | None | 1.0 | N | 0.81 | 0.515 | 0.5353919603 | gnomAD-4.0.0 | 1.59302E-06 | None | None | None | None | I | None | 0 | 0 | None | 4.77373E-05 | 0 | None | 0 | 0 | 0 | 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 | 0.9066 | likely_pathogenic | 0.9072 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.517015178 | None | None | I |
| G/C | 0.9408 | likely_pathogenic | 0.9384 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/D | 0.978 | likely_pathogenic | 0.9728 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| G/E | 0.988 | likely_pathogenic | 0.984 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.518789605 | None | None | I |
| G/F | 0.9897 | likely_pathogenic | 0.9869 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/H | 0.9916 | likely_pathogenic | 0.9904 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/I | 0.9903 | likely_pathogenic | 0.9874 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/K | 0.9921 | likely_pathogenic | 0.9905 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/L | 0.9849 | likely_pathogenic | 0.9828 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/M | 0.9908 | likely_pathogenic | 0.9899 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/N | 0.9759 | likely_pathogenic | 0.9725 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Q | 0.987 | likely_pathogenic | 0.9841 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/R | 0.9812 | likely_pathogenic | 0.9754 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.507015226 | None | None | I |
| G/S | 0.8925 | likely_pathogenic | 0.8683 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| G/T | 0.9793 | likely_pathogenic | 0.9759 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/V | 0.9847 | likely_pathogenic | 0.9805 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.536222296 | None | None | I |
| G/W | 0.9901 | likely_pathogenic | 0.9861 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/Y | 0.9879 | likely_pathogenic | 0.9849 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
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.