Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19561 | 58906;58907;58908 | chr2:178593619;178593618;178593617 | chr2:179458346;179458345;179458344 |
| N2AB | 17920 | 53983;53984;53985 | chr2:178593619;178593618;178593617 | chr2:179458346;179458345;179458344 |
| N2A | 16993 | 51202;51203;51204 | chr2:178593619;178593618;178593617 | chr2:179458346;179458345;179458344 |
| N2B | 10496 | 31711;31712;31713 | chr2:178593619;178593618;178593617 | chr2:179458346;179458345;179458344 |
| Novex-1 | 10621 | 32086;32087;32088 | chr2:178593619;178593618;178593617 | chr2:179458346;179458345;179458344 |
| Novex-2 | 10688 | 32287;32288;32289 | chr2:178593619;178593618;178593617 | chr2:179458346;179458345;179458344 |
| 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 | rs372491628  |
-0.473 | 1.0 | D | 0.764 | 0.588 | 0.59827724986 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/A | rs372491628 |
-0.473 | 1.0 | D | 0.764 | 0.588 | 0.59827724986 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs372491628 |
-0.473 | 1.0 | D | 0.764 | 0.588 | 0.59827724986 | gnomAD-4.0.0 | 4.34038E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93476E-06 | 0 | 0 |
| G/E | rs372491628 |
-0.689 | 1.0 | D | 0.907 | 0.668 | None | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/R | rs760399687 |
-0.522 | 1.0 | D | 0.917 | 0.65 | 0.647335815468 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/R | rs760399687 |
-0.522 | 1.0 | D | 0.917 | 0.65 | 0.647335815468 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs760399687 |
-0.522 | 1.0 | D | 0.917 | 0.65 | 0.647335815468 | gnomAD-4.0.0 | 5.1307E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57864E-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 | 0.9304 | likely_pathogenic | 0.9205 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.561556524 | None | None | I |
| G/C | 0.9723 | likely_pathogenic | 0.9669 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/D | 0.9846 | likely_pathogenic | 0.9823 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | I |
| G/E | 0.9919 | likely_pathogenic | 0.9903 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.561556524 | None | None | I |
| G/F | 0.9964 | likely_pathogenic | 0.9955 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/H | 0.9961 | likely_pathogenic | 0.9951 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/I | 0.996 | likely_pathogenic | 0.9952 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/K | 0.9962 | likely_pathogenic | 0.9954 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/L | 0.9952 | likely_pathogenic | 0.994 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/M | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/N | 0.9918 | likely_pathogenic | 0.9901 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/Q | 0.9921 | likely_pathogenic | 0.9908 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/R | 0.9849 | likely_pathogenic | 0.982 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.550289124 | None | None | I |
| G/S | 0.8918 | likely_pathogenic | 0.8726 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/T | 0.9857 | likely_pathogenic | 0.9843 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/V | 0.9918 | likely_pathogenic | 0.9901 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.562063503 | None | None | I |
| G/W | 0.9917 | likely_pathogenic | 0.9898 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/Y | 0.9943 | likely_pathogenic | 0.9927 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.893 | 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.