Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30331 | 91216;91217;91218 | chr2:178551909;178551908;178551907 | chr2:179416636;179416635;179416634 |
| N2AB | 28690 | 86293;86294;86295 | chr2:178551909;178551908;178551907 | chr2:179416636;179416635;179416634 |
| N2A | 27763 | 83512;83513;83514 | chr2:178551909;178551908;178551907 | chr2:179416636;179416635;179416634 |
| N2B | 21266 | 64021;64022;64023 | chr2:178551909;178551908;178551907 | chr2:179416636;179416635;179416634 |
| Novex-1 | 21391 | 64396;64397;64398 | chr2:178551909;178551908;178551907 | chr2:179416636;179416635;179416634 |
| Novex-2 | 21458 | 64597;64598;64599 | chr2:178551909;178551908;178551907 | chr2:179416636;179416635;179416634 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | N | 0.783 | 0.458 | 0.444102476654 | gnomAD-4.0.0 | 6.84239E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99528E-07 | 0 | 0 |
| P/S | rs75022916  |
-2.661 | 1.0 | D | 0.819 | 0.468 | None | gnomAD-2.1.1 | 6.43E-05 | None | None | None | None | N | None | 7.02654E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs75022916 |
-2.661 | 1.0 | D | 0.819 | 0.468 | None | gnomAD-3.1.2 | 2.62988E-04 | None | None | None | None | N | None | 9.41711E-04 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs75022916 |
-2.661 | 1.0 | D | 0.819 | 0.468 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/S | rs75022916 |
-2.661 | 1.0 | D | 0.819 | 0.468 | None | gnomAD-4.0.0 | 4.33787E-05 | None | None | None | None | N | None | 8.66597E-04 | 3.33389E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.80184E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4992 | ambiguous | 0.6065 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.502564092 | None | None | N |
| P/C | 0.8989 | likely_pathogenic | 0.9273 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/D | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -2.907 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/E | 0.9958 | likely_pathogenic | 0.9967 | pathogenic | -2.711 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/F | 0.9949 | likely_pathogenic | 0.9973 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/G | 0.9693 | likely_pathogenic | 0.9803 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/H | 0.9946 | likely_pathogenic | 0.9964 | pathogenic | -2.291 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/I | 0.6785 | likely_pathogenic | 0.7527 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/K | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/L | 0.5277 | ambiguous | 0.5933 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.454615704 | None | None | N |
| P/M | 0.8835 | likely_pathogenic | 0.9132 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/N | 0.9932 | likely_pathogenic | 0.9953 | pathogenic | -1.961 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/Q | 0.9911 | likely_pathogenic | 0.9938 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.541432401 | None | None | N |
| P/R | 0.9949 | likely_pathogenic | 0.9964 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.523328146 | None | None | N |
| P/S | 0.9566 | likely_pathogenic | 0.9726 | pathogenic | -2.515 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.529658022 | None | None | N |
| P/T | 0.8111 | likely_pathogenic | 0.8593 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.540925422 | None | None | N |
| P/V | 0.4575 | ambiguous | 0.5425 | ambiguous | -1.141 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/Y | 0.9977 | likely_pathogenic | 0.9987 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.895 | 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.