Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31445 | 94558;94559;94560 | chr2:178547192;178547191;178547190 | chr2:179411919;179411918;179411917 |
| N2AB | 29804 | 89635;89636;89637 | chr2:178547192;178547191;178547190 | chr2:179411919;179411918;179411917 |
| N2A | 28877 | 86854;86855;86856 | chr2:178547192;178547191;178547190 | chr2:179411919;179411918;179411917 |
| N2B | 22380 | 67363;67364;67365 | chr2:178547192;178547191;178547190 | chr2:179411919;179411918;179411917 |
| Novex-1 | 22505 | 67738;67739;67740 | chr2:178547192;178547191;178547190 | chr2:179411919;179411918;179411917 |
| Novex-2 | 22572 | 67939;67940;67941 | chr2:178547192;178547191;178547190 | chr2:179411919;179411918;179411917 |
| 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 | rs564410456  |
-0.666 | 0.011 | N | 0.206 | 0.145 | 0.39798585902 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11309E-04 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs564410456 |
-0.666 | 0.011 | N | 0.206 | 0.145 | 0.39798585902 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs564410456 |
-0.666 | 0.011 | N | 0.206 | 0.145 | 0.39798585902 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/I | rs564410456 |
-0.666 | 0.011 | N | 0.206 | 0.145 | 0.39798585902 | gnomAD-4.0.0 | 3.09824E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.91623E-05 | None | 0 | 0 | 8.47621E-07 | 0 | 0 |
| V/L | rs564410456 |
-0.669 | 0.437 | N | 0.365 | 0.191 | 0.416581338634 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| V/L | rs564410456 |
-0.669 | 0.437 | N | 0.365 | 0.191 | 0.416581338634 | gnomAD-4.0.0 | 6.84202E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99481E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7949 | likely_pathogenic | 0.7857 | pathogenic | -2.64 | Highly Destabilizing | 0.78 | D | 0.598 | neutral | D | 0.538185577 | None | None | N |
| V/C | 0.9454 | likely_pathogenic | 0.9433 | pathogenic | -1.677 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| V/D | 0.998 | likely_pathogenic | 0.9974 | pathogenic | -3.288 | Highly Destabilizing | 0.995 | D | 0.891 | deleterious | D | 0.538946046 | None | None | N |
| V/E | 0.9907 | likely_pathogenic | 0.9887 | pathogenic | -2.976 | Highly Destabilizing | 0.996 | D | 0.857 | deleterious | None | None | None | None | N |
| V/F | 0.8426 | likely_pathogenic | 0.7935 | pathogenic | -1.47 | Destabilizing | 0.968 | D | 0.76 | deleterious | D | 0.538692556 | None | None | N |
| V/G | 0.9346 | likely_pathogenic | 0.9273 | pathogenic | -3.201 | Highly Destabilizing | 0.995 | D | 0.874 | deleterious | D | 0.538946046 | None | None | N |
| V/H | 0.9971 | likely_pathogenic | 0.9965 | pathogenic | -2.961 | Highly Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| V/I | 0.0749 | likely_benign | 0.0677 | benign | -0.979 | Destabilizing | 0.011 | N | 0.206 | neutral | N | 0.43917823 | None | None | N |
| V/K | 0.9929 | likely_pathogenic | 0.9914 | pathogenic | -1.964 | Destabilizing | 0.988 | D | 0.857 | deleterious | None | None | None | None | N |
| V/L | 0.3451 | ambiguous | 0.2821 | benign | -0.979 | Destabilizing | 0.437 | N | 0.365 | neutral | N | 0.488321758 | None | None | N |
| V/M | 0.4848 | ambiguous | 0.4287 | ambiguous | -1.191 | Destabilizing | 0.976 | D | 0.629 | neutral | None | None | None | None | N |
| V/N | 0.9898 | likely_pathogenic | 0.9876 | pathogenic | -2.643 | Highly Destabilizing | 0.996 | D | 0.901 | deleterious | None | None | None | None | N |
| V/P | 0.9913 | likely_pathogenic | 0.9876 | pathogenic | -1.521 | Destabilizing | 0.996 | D | 0.862 | deleterious | None | None | None | None | N |
| V/Q | 0.9886 | likely_pathogenic | 0.9857 | pathogenic | -2.274 | Highly Destabilizing | 0.996 | D | 0.881 | deleterious | None | None | None | None | N |
| V/R | 0.9882 | likely_pathogenic | 0.986 | pathogenic | -2.072 | Highly Destabilizing | 0.996 | D | 0.897 | deleterious | None | None | None | None | N |
| V/S | 0.9647 | likely_pathogenic | 0.9607 | pathogenic | -3.075 | Highly Destabilizing | 0.988 | D | 0.815 | deleterious | None | None | None | None | N |
| V/T | 0.8353 | likely_pathogenic | 0.8264 | pathogenic | -2.622 | Highly Destabilizing | 0.919 | D | 0.607 | neutral | None | None | None | None | N |
| V/W | 0.9958 | likely_pathogenic | 0.9941 | pathogenic | -1.91 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| V/Y | 0.9884 | likely_pathogenic | 0.9852 | pathogenic | -1.739 | Destabilizing | 0.996 | D | 0.756 | 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.