Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30362 | 91309;91310;91311 | chr2:178551816;178551815;178551814 | chr2:179416543;179416542;179416541 |
| N2AB | 28721 | 86386;86387;86388 | chr2:178551816;178551815;178551814 | chr2:179416543;179416542;179416541 |
| N2A | 27794 | 83605;83606;83607 | chr2:178551816;178551815;178551814 | chr2:179416543;179416542;179416541 |
| N2B | 21297 | 64114;64115;64116 | chr2:178551816;178551815;178551814 | chr2:179416543;179416542;179416541 |
| Novex-1 | 21422 | 64489;64490;64491 | chr2:178551816;178551815;178551814 | chr2:179416543;179416542;179416541 |
| Novex-2 | 21489 | 64690;64691;64692 | chr2:178551816;178551815;178551814 | chr2:179416543;179416542;179416541 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs764904720  |
-1.461 | 0.999 | N | 0.69 | 0.473 | 0.524271286562 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| E/K | rs764904720 |
-1.461 | 0.999 | N | 0.69 | 0.473 | 0.524271286562 | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69835E-06 | 0 | 0 |
| E/Q | rs764904720 |
-1.291 | 1.0 | N | 0.755 | 0.336 | 0.295623431141 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.19914E-04 | 7.83E-06 | 0 |
| E/Q | rs764904720 |
-1.291 | 1.0 | N | 0.755 | 0.336 | 0.295623431141 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/Q | rs764904720 |
-1.291 | 1.0 | N | 0.755 | 0.336 | 0.295623431141 | gnomAD-4.0.0 | 1.05349E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.34368E-04 | 0 | 8.47598E-07 | 0 | 1.60102E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8361 | likely_pathogenic | 0.869 | pathogenic | -0.788 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | D | 0.531241411 | None | None | N |
| E/C | 0.9845 | likely_pathogenic | 0.9864 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| E/D | 0.8177 | likely_pathogenic | 0.8504 | pathogenic | -1.7 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.48014465 | None | None | N |
| E/F | 0.9856 | likely_pathogenic | 0.9882 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/G | 0.902 | likely_pathogenic | 0.9154 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.526267888 | None | None | N |
| E/H | 0.9716 | likely_pathogenic | 0.9766 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/I | 0.9588 | likely_pathogenic | 0.9722 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| E/K | 0.9289 | likely_pathogenic | 0.9428 | pathogenic | -0.878 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | N | 0.514832223 | None | None | N |
| E/L | 0.9545 | likely_pathogenic | 0.9644 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/M | 0.9357 | likely_pathogenic | 0.9489 | pathogenic | 0.854 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| E/N | 0.9698 | likely_pathogenic | 0.9792 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.052 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/Q | 0.5863 | likely_pathogenic | 0.6228 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.465937508 | None | None | N |
| E/R | 0.9555 | likely_pathogenic | 0.9632 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/S | 0.8888 | likely_pathogenic | 0.9181 | pathogenic | -1.703 | Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | N |
| E/T | 0.9528 | likely_pathogenic | 0.9659 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/V | 0.8937 | likely_pathogenic | 0.9232 | pathogenic | -0.052 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.516860139 | None | None | N |
| E/W | 0.9954 | likely_pathogenic | 0.9958 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| E/Y | 0.9838 | likely_pathogenic | 0.986 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
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.