Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22421 | 67486;67487;67488 | chr2:178580026;178580025;178580024 | chr2:179444753;179444752;179444751 |
| N2AB | 20780 | 62563;62564;62565 | chr2:178580026;178580025;178580024 | chr2:179444753;179444752;179444751 |
| N2A | 19853 | 59782;59783;59784 | chr2:178580026;178580025;178580024 | chr2:179444753;179444752;179444751 |
| N2B | 13356 | 40291;40292;40293 | chr2:178580026;178580025;178580024 | chr2:179444753;179444752;179444751 |
| Novex-1 | 13481 | 40666;40667;40668 | chr2:178580026;178580025;178580024 | chr2:179444753;179444752;179444751 |
| Novex-2 | 13548 | 40867;40868;40869 | chr2:178580026;178580025;178580024 | chr2:179444753;179444752;179444751 |
| 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/R | rs371992765  |
None | 1.0 | D | 0.836 | 0.634 | 0.7574854 | gnomAD-4.0.0 | 1.59232E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86023E-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 | 0.7361 | likely_pathogenic | 0.6352 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.50584036 | None | None | N |
| G/C | 0.8176 | likely_pathogenic | 0.7236 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/D | 0.7785 | likely_pathogenic | 0.6414 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/E | 0.8133 | likely_pathogenic | 0.7039 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.5063341 | None | None | N |
| G/F | 0.9812 | likely_pathogenic | 0.9666 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/H | 0.9432 | likely_pathogenic | 0.8848 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/I | 0.9827 | likely_pathogenic | 0.9673 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/K | 0.9248 | likely_pathogenic | 0.8818 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/L | 0.9675 | likely_pathogenic | 0.9419 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/M | 0.9627 | likely_pathogenic | 0.9329 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/N | 0.7165 | likely_pathogenic | 0.5612 | ambiguous | -0.565 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/P | 0.9967 | likely_pathogenic | 0.9945 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/Q | 0.8642 | likely_pathogenic | 0.7806 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/R | 0.882 | likely_pathogenic | 0.8242 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.5380364 | None | None | N |
| G/S | 0.4793 | ambiguous | 0.3386 | benign | -0.743 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/T | 0.8237 | likely_pathogenic | 0.7243 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/V | 0.9535 | likely_pathogenic | 0.9251 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.5350114 | None | None | N |
| G/W | 0.9411 | likely_pathogenic | 0.9024 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Y | 0.9535 | likely_pathogenic | 0.9134 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.79 | 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.