Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9284 | 28075;28076;28077 | chr2:178711980;178711979;178711978 | chr2:179576707;179576706;179576705 |
| N2AB | 8967 | 27124;27125;27126 | chr2:178711980;178711979;178711978 | chr2:179576707;179576706;179576705 |
| N2A | 8040 | 24343;24344;24345 | chr2:178711980;178711979;178711978 | chr2:179576707;179576706;179576705 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs770920718  |
-0.903 | 1.0 | D | 0.844 | 0.76 | 0.717566290573 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| G/E | rs770920718 |
-0.903 | 1.0 | D | 0.844 | 0.76 | 0.717566290573 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| G/R | rs2076727185 |
None | 1.0 | D | 0.873 | 0.779 | 0.835362870993 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs2076727185 |
None | 1.0 | D | 0.873 | 0.779 | 0.835362870993 | gnomAD-4.0.0 | 2.02986E-06 | None | None | None | None | I | None | 0 | 6.15385E-05 | None | 0 | 0 | None | 0 | 0 | 1.20491E-06 | 0 | 0 |
| G/V | rs770920718 |
-0.177 | 1.0 | D | 0.842 | 0.734 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| G/V | rs770920718 |
-0.177 | 1.0 | D | 0.842 | 0.734 | None | gnomAD-4.0.0 | 4.81369E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.66126E-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 | 0.8155 | likely_pathogenic | 0.8413 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.59271057 | None | None | I |
| G/C | 0.9682 | likely_pathogenic | 0.9761 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/D | 0.9595 | likely_pathogenic | 0.9671 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/E | 0.9787 | likely_pathogenic | 0.9837 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.53909522 | None | None | I |
| G/F | 0.9936 | likely_pathogenic | 0.9955 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/H | 0.9923 | likely_pathogenic | 0.9947 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/I | 0.9946 | likely_pathogenic | 0.9969 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/K | 0.9886 | likely_pathogenic | 0.9922 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/L | 0.9901 | likely_pathogenic | 0.9936 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/M | 0.9931 | likely_pathogenic | 0.9955 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/N | 0.977 | likely_pathogenic | 0.9795 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/Q | 0.98 | likely_pathogenic | 0.9844 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/R | 0.9682 | likely_pathogenic | 0.9774 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.620772132 | None | None | I |
| G/S | 0.734 | likely_pathogenic | 0.7797 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/T | 0.9514 | likely_pathogenic | 0.9686 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/V | 0.9863 | likely_pathogenic | 0.9917 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.646915657 | None | None | I |
| G/W | 0.9845 | likely_pathogenic | 0.9896 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/Y | 0.9907 | likely_pathogenic | 0.9934 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.842 | 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.