Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30951 | 93076;93077;93078 | chr2:178548775;178548774;178548773 | chr2:179413502;179413501;179413500 |
| N2AB | 29310 | 88153;88154;88155 | chr2:178548775;178548774;178548773 | chr2:179413502;179413501;179413500 |
| N2A | 28383 | 85372;85373;85374 | chr2:178548775;178548774;178548773 | chr2:179413502;179413501;179413500 |
| N2B | 21886 | 65881;65882;65883 | chr2:178548775;178548774;178548773 | chr2:179413502;179413501;179413500 |
| Novex-1 | 22011 | 66256;66257;66258 | chr2:178548775;178548774;178548773 | chr2:179413502;179413501;179413500 |
| Novex-2 | 22078 | 66457;66458;66459 | chr2:178548775;178548774;178548773 | chr2:179413502;179413501;179413500 |
| 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/A | None | None | 1.0 | D | 0.723 | 0.817 | 0.553630913754 | gnomAD-4.0.0 | 6.84481E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99475E-07 | 0 | 0 |
| G/D | None | None | 1.0 | D | 0.823 | 0.852 | 0.661789245089 | gnomAD-4.0.0 | 6.84481E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99475E-07 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.788 | 0.843 | 0.80964421427 | gnomAD-4.0.0 | 6.84481E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7343E-04 | 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 | 0.7228 | likely_pathogenic | 0.691 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.563464952 | None | None | I |
| G/C | 0.9575 | likely_pathogenic | 0.9471 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.636293214 | None | None | I |
| G/D | 0.9917 | likely_pathogenic | 0.9887 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.635082388 | None | None | I |
| G/E | 0.9951 | likely_pathogenic | 0.993 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/F | 0.9974 | likely_pathogenic | 0.9965 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/H | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| G/I | 0.9949 | likely_pathogenic | 0.9925 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/K | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/L | 0.9945 | likely_pathogenic | 0.9927 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/M | 0.9974 | likely_pathogenic | 0.9963 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/N | 0.9951 | likely_pathogenic | 0.9936 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/Q | 0.9972 | likely_pathogenic | 0.9961 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/R | 0.9952 | likely_pathogenic | 0.9933 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.635889605 | None | None | I |
| G/S | 0.8489 | likely_pathogenic | 0.8239 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.619032667 | None | None | I |
| G/T | 0.9827 | likely_pathogenic | 0.9781 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/V | 0.9838 | likely_pathogenic | 0.9781 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.635889605 | None | None | I |
| G/W | 0.9964 | likely_pathogenic | 0.995 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9968 | likely_pathogenic | 0.9957 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.765 | 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.