Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31245 | 93958;93959;93960 | chr2:178547893;178547892;178547891 | chr2:179412620;179412619;179412618 |
| N2AB | 29604 | 89035;89036;89037 | chr2:178547893;178547892;178547891 | chr2:179412620;179412619;179412618 |
| N2A | 28677 | 86254;86255;86256 | chr2:178547893;178547892;178547891 | chr2:179412620;179412619;179412618 |
| N2B | 22180 | 66763;66764;66765 | chr2:178547893;178547892;178547891 | chr2:179412620;179412619;179412618 |
| Novex-1 | 22305 | 67138;67139;67140 | chr2:178547893;178547892;178547891 | chr2:179412620;179412619;179412618 |
| Novex-2 | 22372 | 67339;67340;67341 | chr2:178547893;178547892;178547891 | chr2:179412620;179412619;179412618 |
| 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/L | rs760438860  |
-0.522 | 1.0 | D | 0.849 | 0.602 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 2.06714E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/L | rs760438860 |
-0.522 | 1.0 | D | 0.849 | 0.602 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs760438860 |
-0.522 | 1.0 | D | 0.849 | 0.602 | None | gnomAD-4.0.0 | 3.71826E-06 | None | None | None | None | N | None | 6.67771E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09791E-05 | 0 |
| P/R | rs760438860 |
-0.925 | 1.0 | D | 0.861 | 0.647 | 0.670756170047 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs760438860 |
-0.925 | 1.0 | D | 0.861 | 0.647 | 0.670756170047 | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | N | None | 5.97514E-05 | 0 | None | 3.82702E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.847 | 0.59 | 0.569844293628 | gnomAD-4.0.0 | 2.05258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6983E-06 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.855 | 0.614 | 0.623711697247 | gnomAD-4.0.0 | 6.84192E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99434E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5258 | ambiguous | 0.5543 | ambiguous | -1.401 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.53324587 | None | None | N |
| P/C | 0.9494 | likely_pathogenic | 0.96 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/D | 0.9971 | likely_pathogenic | 0.9984 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/E | 0.9882 | likely_pathogenic | 0.9925 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/F | 0.9944 | likely_pathogenic | 0.996 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/G | 0.95 | likely_pathogenic | 0.9673 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/H | 0.9852 | likely_pathogenic | 0.9901 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.557479417 | None | None | N |
| P/I | 0.9366 | likely_pathogenic | 0.9505 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/K | 0.991 | likely_pathogenic | 0.9942 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/L | 0.8033 | likely_pathogenic | 0.8503 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.541053322 | None | None | N |
| P/M | 0.9627 | likely_pathogenic | 0.9716 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/N | 0.9941 | likely_pathogenic | 0.9964 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Q | 0.9701 | likely_pathogenic | 0.978 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/R | 0.9708 | likely_pathogenic | 0.9804 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.556972438 | None | None | N |
| P/S | 0.9064 | likely_pathogenic | 0.9298 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.538525789 | None | None | N |
| P/T | 0.8879 | likely_pathogenic | 0.9221 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.556465459 | None | None | N |
| P/V | 0.8373 | likely_pathogenic | 0.8692 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/W | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/Y | 0.9955 | likely_pathogenic | 0.9969 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.841 | 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.