Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25366 | 76321;76322;76323 | chr2:178570036;178570035;178570034 | chr2:179434763;179434762;179434761 |
| N2AB | 23725 | 71398;71399;71400 | chr2:178570036;178570035;178570034 | chr2:179434763;179434762;179434761 |
| N2A | 22798 | 68617;68618;68619 | chr2:178570036;178570035;178570034 | chr2:179434763;179434762;179434761 |
| N2B | 16301 | 49126;49127;49128 | chr2:178570036;178570035;178570034 | chr2:179434763;179434762;179434761 |
| Novex-1 | 16426 | 49501;49502;49503 | chr2:178570036;178570035;178570034 | chr2:179434763;179434762;179434761 |
| Novex-2 | 16493 | 49702;49703;49704 | chr2:178570036;178570035;178570034 | chr2:179434763;179434762;179434761 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | None | None | 0.767 | N | 0.255 | 0.174 | 0.429435026966 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/L | rs571834965  |
-0.463 | 0.981 | N | 0.624 | 0.292 | 0.388970301349 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/L | rs571834965 |
-0.463 | 0.981 | N | 0.624 | 0.292 | 0.388970301349 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| V/L | rs571834965 |
-0.463 | 0.981 | N | 0.624 | 0.292 | 0.388970301349 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/L | rs571834965 |
-0.463 | 0.981 | N | 0.624 | 0.292 | 0.388970301349 | gnomAD-4.0.0 | 2.02984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.39673E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.54 | ambiguous | 0.4593 | ambiguous | -1.859 | Destabilizing | 0.998 | D | 0.63 | neutral | N | 0.476353351 | None | None | N |
| V/C | 0.9031 | likely_pathogenic | 0.8969 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/D | 0.9936 | likely_pathogenic | 0.9889 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/E | 0.9772 | likely_pathogenic | 0.9655 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.551341265 | None | None | N |
| V/F | 0.8202 | likely_pathogenic | 0.775 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| V/G | 0.8675 | likely_pathogenic | 0.814 | pathogenic | -2.387 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.551341265 | None | None | N |
| V/H | 0.9924 | likely_pathogenic | 0.9889 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/I | 0.1159 | likely_benign | 0.1166 | benign | -0.412 | Destabilizing | 0.767 | D | 0.255 | neutral | N | 0.492489853 | None | None | N |
| V/K | 0.9884 | likely_pathogenic | 0.9843 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| V/L | 0.657 | likely_pathogenic | 0.6249 | pathogenic | -0.412 | Destabilizing | 0.981 | D | 0.624 | neutral | N | 0.512456907 | None | None | N |
| V/M | 0.6246 | likely_pathogenic | 0.5864 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| V/N | 0.9687 | likely_pathogenic | 0.9499 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/P | 0.9884 | likely_pathogenic | 0.9825 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| V/Q | 0.9737 | likely_pathogenic | 0.9614 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/R | 0.9838 | likely_pathogenic | 0.9767 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/S | 0.858 | likely_pathogenic | 0.7943 | pathogenic | -2.431 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/T | 0.787 | likely_pathogenic | 0.7489 | pathogenic | -2.077 | Highly Destabilizing | 0.998 | D | 0.658 | neutral | None | None | None | None | N |
| V/W | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| V/Y | 0.98 | likely_pathogenic | 0.9747 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.771 | 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.