Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18194 | 54805;54806;54807 | chr2:178604107;178604106;178604105 | chr2:179468834;179468833;179468832 |
| N2AB | 16553 | 49882;49883;49884 | chr2:178604107;178604106;178604105 | chr2:179468834;179468833;179468832 |
| N2A | 15626 | 47101;47102;47103 | chr2:178604107;178604106;178604105 | chr2:179468834;179468833;179468832 |
| N2B | 9129 | 27610;27611;27612 | chr2:178604107;178604106;178604105 | chr2:179468834;179468833;179468832 |
| Novex-1 | 9254 | 27985;27986;27987 | chr2:178604107;178604106;178604105 | chr2:179468834;179468833;179468832 |
| Novex-2 | 9321 | 28186;28187;28188 | chr2:178604107;178604106;178604105 | chr2:179468834;179468833;179468832 |
| 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/D | rs201802447  |
-0.904 | 1.0 | N | 0.833 | 0.491 | None | gnomAD-2.1.1 | 7.16E-05 | None | None | None | None | I | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.4895E-04 | 0 |
| G/D | rs201802447 |
-0.904 | 1.0 | N | 0.833 | 0.491 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.17716E-04 | 0 | 0 |
| G/D | rs201802447 |
-0.904 | 1.0 | N | 0.833 | 0.491 | None | gnomAD-4.0.0 | 7.31786E-05 | None | None | None | None | I | None | 1.33626E-05 | 0 | None | 0 | 0 | None | 0 | 1.64799E-04 | 9.49917E-05 | 0 | 6.41005E-05 |
| G/S | None | None | 1.0 | N | 0.814 | 0.486 | 0.310147130316 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | 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 | 0.9374 | likely_pathogenic | 0.858 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.507564068 | None | None | I |
| G/C | 0.9875 | likely_pathogenic | 0.9687 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.535329561 | None | None | I |
| G/D | 0.9927 | likely_pathogenic | 0.9837 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.501207739 | None | None | I |
| G/E | 0.9963 | likely_pathogenic | 0.9904 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/F | 0.9979 | likely_pathogenic | 0.9954 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/H | 0.9975 | likely_pathogenic | 0.9941 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/I | 0.9981 | likely_pathogenic | 0.9949 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/K | 0.9974 | likely_pathogenic | 0.9944 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/L | 0.9969 | likely_pathogenic | 0.9926 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/M | 0.9989 | likely_pathogenic | 0.997 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/N | 0.9942 | likely_pathogenic | 0.9865 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/Q | 0.9957 | likely_pathogenic | 0.9897 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/R | 0.9877 | likely_pathogenic | 0.9744 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.868 | deleterious | N | 0.484179894 | None | None | I |
| G/S | 0.9354 | likely_pathogenic | 0.8523 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.496839646 | None | None | I |
| G/T | 0.9939 | likely_pathogenic | 0.9852 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/V | 0.996 | likely_pathogenic | 0.9891 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.854 | deleterious | N | 0.516971817 | None | None | I |
| G/W | 0.9949 | likely_pathogenic | 0.9889 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/Y | 0.9966 | likely_pathogenic | 0.9922 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.829 | 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.