Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30726 | 92401;92402;92403 | chr2:178549450;178549449;178549448 | chr2:179414177;179414176;179414175 |
| N2AB | 29085 | 87478;87479;87480 | chr2:178549450;178549449;178549448 | chr2:179414177;179414176;179414175 |
| N2A | 28158 | 84697;84698;84699 | chr2:178549450;178549449;178549448 | chr2:179414177;179414176;179414175 |
| N2B | 21661 | 65206;65207;65208 | chr2:178549450;178549449;178549448 | chr2:179414177;179414176;179414175 |
| Novex-1 | 21786 | 65581;65582;65583 | chr2:178549450;178549449;178549448 | chr2:179414177;179414176;179414175 |
| Novex-2 | 21853 | 65782;65783;65784 | chr2:178549450;178549449;178549448 | chr2:179414177;179414176;179414175 |
| 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 | rs72648247  |
-2.31 | 1.0 | N | 0.744 | 0.459 | 0.386395597597 | gnomAD-2.1.1 | 2.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.99005E-04 | None | 0 | 0 | 0 |
| P/A | rs72648247 |
-2.31 | 1.0 | N | 0.744 | 0.459 | 0.386395597597 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| P/A | rs72648247 |
-2.31 | 1.0 | N | 0.744 | 0.459 | 0.386395597597 | gnomAD-4.0.0 | 1.05787E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.76464E-04 | 1.60999E-05 |
| P/S | rs72648247 |
-2.651 | 1.0 | D | 0.795 | 0.52 | None | gnomAD-2.1.1 | 2.59095E-03 | None | None | None | None | N | None | 8.28E-05 | 7.99954E-04 | None | 5.52159E-03 | 0 | None | 5.27363E-03 | None | 1.61577E-03 | 3.32179E-03 | 1.84607E-03 |
| P/S | rs72648247 |
-2.651 | 1.0 | D | 0.795 | 0.52 | None | gnomAD-3.1.2 | 1.98501E-03 | None | None | None | None | N | None | 3.86194E-04 | 7.20367E-04 | 0 | 2.59366E-03 | 0 | None | 1.78975E-03 | 1.26582E-02 | 3.10212E-03 | 5.7995E-03 | 1.91022E-03 |
| P/S | rs72648247 |
-2.651 | 1.0 | D | 0.795 | 0.52 | None | 1000 genomes | 1.99681E-03 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 2E-03 | None | None | None | 7.2E-03 | None |
| P/S | rs72648247 |
-2.651 | 1.0 | D | 0.795 | 0.52 | None | gnomAD-4.0.0 | 2.66501E-03 | None | None | None | None | N | None | 4.14827E-04 | 8.89381E-04 | None | 4.21453E-03 | 0 | None | 1.33195E-03 | 7.13101E-03 | 2.84236E-03 | 5.2721E-03 | 2.07616E-03 |
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 | 0.6969 | likely_pathogenic | 0.7039 | pathogenic | -2.109 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.504539101 | None | None | N |
| P/C | 0.9482 | likely_pathogenic | 0.9494 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -2.817 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/E | 0.9945 | likely_pathogenic | 0.9958 | pathogenic | -2.539 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/F | 0.9932 | likely_pathogenic | 0.9943 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/G | 0.9864 | likely_pathogenic | 0.9882 | pathogenic | -2.683 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/H | 0.9939 | likely_pathogenic | 0.9952 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/I | 0.6817 | likely_pathogenic | 0.6643 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/K | 0.9961 | likely_pathogenic | 0.9971 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/L | 0.4612 | ambiguous | 0.4402 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.452311526 | None | None | N |
| P/M | 0.8989 | likely_pathogenic | 0.8946 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/N | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/Q | 0.988 | likely_pathogenic | 0.9904 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.556574142 | None | None | N |
| P/R | 0.9895 | likely_pathogenic | 0.9924 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.556574142 | None | None | N |
| P/S | 0.9773 | likely_pathogenic | 0.9801 | pathogenic | -2.594 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.538216397 | None | None | N |
| P/T | 0.8855 | likely_pathogenic | 0.8842 | pathogenic | -2.159 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.556067163 | None | None | N |
| P/V | 0.5557 | ambiguous | 0.5213 | ambiguous | -0.994 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/W | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -1.627 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/Y | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.892 | 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.