Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23167 | 69724;69725;69726 | chr2:178576745;178576744;178576743 | chr2:179441472;179441471;179441470 |
| N2AB | 21526 | 64801;64802;64803 | chr2:178576745;178576744;178576743 | chr2:179441472;179441471;179441470 |
| N2A | 20599 | 62020;62021;62022 | chr2:178576745;178576744;178576743 | chr2:179441472;179441471;179441470 |
| N2B | 14102 | 42529;42530;42531 | chr2:178576745;178576744;178576743 | chr2:179441472;179441471;179441470 |
| Novex-1 | 14227 | 42904;42905;42906 | chr2:178576745;178576744;178576743 | chr2:179441472;179441471;179441470 |
| Novex-2 | 14294 | 43105;43106;43107 | chr2:178576745;178576744;178576743 | chr2:179441472;179441471;179441470 |
| 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/D | None | None | 1.0 | N | 0.843 | 0.595 | 0.398133443147 | gnomAD-4.0.0 | 6.84294E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65678E-05 |
| G/S | rs1412783912  |
-0.588 | 1.0 | N | 0.799 | 0.467 | 0.351830644314 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/S | rs1412783912 |
-0.588 | 1.0 | N | 0.799 | 0.467 | 0.351830644314 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85923E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.811 | 0.557 | 0.628150982837 | gnomAD-4.0.0 | 6.84294E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99567E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8867 | likely_pathogenic | 0.8961 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.517972548 | None | None | I |
| G/C | 0.9504 | likely_pathogenic | 0.9566 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.537344251 | None | None | I |
| G/D | 0.9886 | likely_pathogenic | 0.9918 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.513982849 | None | None | I |
| G/E | 0.9922 | likely_pathogenic | 0.9934 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/F | 0.9945 | likely_pathogenic | 0.9952 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/H | 0.9888 | likely_pathogenic | 0.991 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/I | 0.9958 | likely_pathogenic | 0.9959 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/K | 0.9906 | likely_pathogenic | 0.9912 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9919 | likely_pathogenic | 0.9931 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/M | 0.9956 | likely_pathogenic | 0.996 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.9801 | likely_pathogenic | 0.9844 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Q | 0.9872 | likely_pathogenic | 0.9881 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/R | 0.9661 | likely_pathogenic | 0.9708 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.492373102 | None | None | I |
| G/S | 0.8242 | likely_pathogenic | 0.8485 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.501727944 | None | None | I |
| G/T | 0.9819 | likely_pathogenic | 0.9831 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/V | 0.991 | likely_pathogenic | 0.9912 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.536837272 | None | None | I |
| G/W | 0.9855 | likely_pathogenic | 0.9875 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9908 | likely_pathogenic | 0.992 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
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.