Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26659 | 80200;80201;80202 | chr2:178566157;178566156;178566155 | chr2:179430884;179430883;179430882 |
| N2AB | 25018 | 75277;75278;75279 | chr2:178566157;178566156;178566155 | chr2:179430884;179430883;179430882 |
| N2A | 24091 | 72496;72497;72498 | chr2:178566157;178566156;178566155 | chr2:179430884;179430883;179430882 |
| N2B | 17594 | 53005;53006;53007 | chr2:178566157;178566156;178566155 | chr2:179430884;179430883;179430882 |
| Novex-1 | 17719 | 53380;53381;53382 | chr2:178566157;178566156;178566155 | chr2:179430884;179430883;179430882 |
| Novex-2 | 17786 | 53581;53582;53583 | chr2:178566157;178566156;178566155 | chr2:179430884;179430883;179430882 |
| 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 | rs574711878  |
-0.214 | 1.0 | D | 0.759 | 0.798 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/A | rs574711878 |
-0.214 | 1.0 | D | 0.759 | 0.798 | None | gnomAD-4.0.0 | 1.3001E-05 | None | None | None | None | I | None | 2.98936E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61917E-05 | 0 | 0 |
| G/V | rs574711878 |
0.146 | 1.0 | D | 0.808 | 0.847 | 0.805767687249 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs574711878 |
0.146 | 1.0 | D | 0.808 | 0.847 | 0.805767687249 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/V | rs574711878 |
0.146 | 1.0 | D | 0.808 | 0.847 | 0.805767687249 | gnomAD-4.0.0 | 1.23943E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 4.45951E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7531 | likely_pathogenic | 0.7549 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.572380085 | None | None | I |
| G/C | 0.9166 | likely_pathogenic | 0.9258 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/D | 0.975 | likely_pathogenic | 0.9787 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/E | 0.9784 | likely_pathogenic | 0.9825 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.649033704 | None | None | I |
| G/F | 0.9896 | likely_pathogenic | 0.9915 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/H | 0.9906 | likely_pathogenic | 0.9923 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| G/I | 0.9918 | likely_pathogenic | 0.9926 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/K | 0.9876 | likely_pathogenic | 0.9897 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/L | 0.986 | likely_pathogenic | 0.9876 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9897 | likely_pathogenic | 0.9917 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/N | 0.979 | likely_pathogenic | 0.9837 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/Q | 0.9692 | likely_pathogenic | 0.9752 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/R | 0.9634 | likely_pathogenic | 0.9683 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.6488319 | None | None | I |
| G/S | 0.7086 | likely_pathogenic | 0.7402 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/T | 0.9548 | likely_pathogenic | 0.9631 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/V | 0.9756 | likely_pathogenic | 0.9778 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.649033704 | None | None | I |
| G/W | 0.9861 | likely_pathogenic | 0.9882 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/Y | 0.99 | likely_pathogenic | 0.9914 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.777 | 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.