Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28286 | 85081;85082;85083 | chr2:178561276;178561275;178561274 | chr2:179426003;179426002;179426001 |
| N2AB | 26645 | 80158;80159;80160 | chr2:178561276;178561275;178561274 | chr2:179426003;179426002;179426001 |
| N2A | 25718 | 77377;77378;77379 | chr2:178561276;178561275;178561274 | chr2:179426003;179426002;179426001 |
| N2B | 19221 | 57886;57887;57888 | chr2:178561276;178561275;178561274 | chr2:179426003;179426002;179426001 |
| Novex-1 | 19346 | 58261;58262;58263 | chr2:178561276;178561275;178561274 | chr2:179426003;179426002;179426001 |
| Novex-2 | 19413 | 58462;58463;58464 | chr2:178561276;178561275;178561274 | chr2:179426003;179426002;179426001 |
| 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/R | rs553949797  |
-0.925 | 1.0 | N | 0.882 | 0.687 | 0.691664804554 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 2.8928E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs553949797 |
-0.925 | 1.0 | N | 0.882 | 0.687 | 0.691664804554 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.68935E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| G/R | rs553949797 |
-0.925 | 1.0 | N | 0.882 | 0.687 | 0.691664804554 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/R | rs553949797 |
-0.925 | 1.0 | N | 0.882 | 0.687 | 0.691664804554 | gnomAD-4.0.0 | 2.04952E-05 | None | None | None | None | N | None | 2.5319E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84204E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4479 | ambiguous | 0.4158 | ambiguous | -0.831 | Destabilizing | 1.0 | D | 0.595 | neutral | N | 0.506179078 | None | None | N |
| G/C | 0.7572 | likely_pathogenic | 0.7529 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/D | 0.9627 | likely_pathogenic | 0.956 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/E | 0.9721 | likely_pathogenic | 0.9658 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.895 | deleterious | N | 0.492999121 | None | None | N |
| G/F | 0.9822 | likely_pathogenic | 0.9856 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/H | 0.9606 | likely_pathogenic | 0.9582 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.9852 | likely_pathogenic | 0.987 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/K | 0.9888 | likely_pathogenic | 0.988 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/L | 0.9784 | likely_pathogenic | 0.9795 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/M | 0.98 | likely_pathogenic | 0.9796 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/N | 0.9178 | likely_pathogenic | 0.8924 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/Q | 0.9565 | likely_pathogenic | 0.948 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/R | 0.9588 | likely_pathogenic | 0.9567 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.882 | deleterious | N | 0.500227596 | None | None | N |
| G/S | 0.2976 | likely_benign | 0.2392 | benign | -1.478 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| G/T | 0.8434 | likely_pathogenic | 0.8192 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| G/V | 0.9585 | likely_pathogenic | 0.9621 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.544540409 | None | None | N |
| G/W | 0.9663 | likely_pathogenic | 0.9713 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/Y | 0.9571 | likely_pathogenic | 0.9638 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.856 | 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.