Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35305 | 106138;106139;106140 | chr2:178530702;178530701;178530700 | chr2:179395429;179395428;179395427 |
| N2AB | 33664 | 101215;101216;101217 | chr2:178530702;178530701;178530700 | chr2:179395429;179395428;179395427 |
| N2A | 32737 | 98434;98435;98436 | chr2:178530702;178530701;178530700 | chr2:179395429;179395428;179395427 |
| N2B | 26240 | 78943;78944;78945 | chr2:178530702;178530701;178530700 | chr2:179395429;179395428;179395427 |
| Novex-1 | 26365 | 79318;79319;79320 | chr2:178530702;178530701;178530700 | chr2:179395429;179395428;179395427 |
| Novex-2 | 26432 | 79519;79520;79521 | chr2:178530702;178530701;178530700 | chr2:179395429;179395428;179395427 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs1243651023  |
-1.872 | 0.995 | D | 0.86 | 0.693 | 0.844537292851 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/G | rs1243651023 |
-1.872 | 0.995 | D | 0.86 | 0.693 | 0.844537292851 | gnomAD-4.0.0 | 1.59093E-06 | None | None | disulfide | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs1323470679 |
-1.557 | 0.983 | D | 0.809 | 0.633 | 0.709820000554 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/S | rs1323470679 |
-1.557 | 0.983 | D | 0.809 | 0.633 | 0.709820000554 | gnomAD-4.0.0 | 2.05244E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47794E-05 | 0 |
| C/Y | rs1323470679 |
-1.147 | 0.944 | D | 0.858 | 0.478 | 0.757083932737 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs1323470679 |
-1.147 | 0.944 | D | 0.858 | 0.478 | 0.757083932737 | gnomAD-4.0.0 | 6.84148E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7291 | likely_pathogenic | 0.8576 | pathogenic | -1.928 | Destabilizing | 0.914 | D | 0.674 | neutral | None | None | disulfide | None | N |
| C/D | 0.9951 | likely_pathogenic | 0.9971 | pathogenic | -1.418 | Destabilizing | 0.996 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9974 | likely_pathogenic | 0.9984 | pathogenic | -1.222 | Destabilizing | 0.996 | D | 0.895 | deleterious | None | None | disulfide | None | N |
| C/F | 0.6487 | likely_pathogenic | 0.7377 | pathogenic | -1.245 | Destabilizing | 0.065 | N | 0.712 | prob.delet. | D | 0.547901906 | disulfide | None | N |
| C/G | 0.6051 | likely_pathogenic | 0.7444 | pathogenic | -2.284 | Highly Destabilizing | 0.995 | D | 0.86 | deleterious | D | 0.536292111 | disulfide | None | N |
| C/H | 0.9829 | likely_pathogenic | 0.9892 | pathogenic | -2.423 | Highly Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8175 | likely_pathogenic | 0.8881 | pathogenic | -0.975 | Destabilizing | 0.978 | D | 0.819 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -1.391 | Destabilizing | 0.996 | D | 0.896 | deleterious | None | None | disulfide | None | N |
| C/L | 0.7615 | likely_pathogenic | 0.8358 | pathogenic | -0.975 | Destabilizing | 0.864 | D | 0.771 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9006 | likely_pathogenic | 0.9324 | pathogenic | 0.07 | Stabilizing | 0.999 | D | 0.799 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9824 | likely_pathogenic | 0.9915 | pathogenic | -1.783 | Destabilizing | 0.996 | D | 0.891 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9961 | likely_pathogenic | 0.9974 | pathogenic | -1.269 | Destabilizing | 0.996 | D | 0.896 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9927 | likely_pathogenic | 0.9961 | pathogenic | -1.459 | Destabilizing | 0.996 | D | 0.909 | deleterious | None | None | disulfide | None | N |
| C/R | 0.979 | likely_pathogenic | 0.9851 | pathogenic | -1.551 | Destabilizing | 0.995 | D | 0.895 | deleterious | D | 0.547901906 | disulfide | None | N |
| C/S | 0.7984 | likely_pathogenic | 0.9044 | pathogenic | -2.195 | Highly Destabilizing | 0.983 | D | 0.809 | deleterious | D | 0.524771221 | disulfide | None | N |
| C/T | 0.8666 | likely_pathogenic | 0.9393 | pathogenic | -1.811 | Destabilizing | 0.996 | D | 0.808 | deleterious | None | None | disulfide | None | N |
| C/V | 0.6887 | likely_pathogenic | 0.8074 | pathogenic | -1.269 | Destabilizing | 0.927 | D | 0.797 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9486 | likely_pathogenic | 0.9624 | pathogenic | -1.5 | Destabilizing | 0.999 | D | 0.876 | deleterious | D | 0.547901906 | disulfide | None | N |
| C/Y | 0.8855 | likely_pathogenic | 0.9258 | pathogenic | -1.384 | Destabilizing | 0.944 | D | 0.858 | deleterious | D | 0.5365456 | disulfide | 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.