Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32570 | 97933;97934;97935 | chr2:178541369;178541368;178541367 | chr2:179406096;179406095;179406094 |
| N2AB | 30929 | 93010;93011;93012 | chr2:178541369;178541368;178541367 | chr2:179406096;179406095;179406094 |
| N2A | 30002 | 90229;90230;90231 | chr2:178541369;178541368;178541367 | chr2:179406096;179406095;179406094 |
| N2B | 23505 | 70738;70739;70740 | chr2:178541369;178541368;178541367 | chr2:179406096;179406095;179406094 |
| Novex-1 | 23630 | 71113;71114;71115 | chr2:178541369;178541368;178541367 | chr2:179406096;179406095;179406094 |
| Novex-2 | 23697 | 71314;71315;71316 | chr2:178541369;178541368;178541367 | chr2:179406096;179406095;179406094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs529186119  |
-2.407 | 1.0 | D | 0.841 | 0.894 | 0.728798078922 | gnomAD-2.1.1 | 8.44E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.92E-05 | None | 0 | 0 | 0 |
| Y/H | rs529186119 |
-2.407 | 1.0 | D | 0.841 | 0.894 | 0.728798078922 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| Y/H | rs529186119 |
-2.407 | 1.0 | D | 0.841 | 0.894 | 0.728798078922 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Y/H | rs529186119 |
-2.407 | 1.0 | D | 0.841 | 0.894 | 0.728798078922 | gnomAD-4.0.0 | 1.86839E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.11707E-05 | 3.21719E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9934 | likely_pathogenic | 0.9942 | pathogenic | -3.737 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/C | 0.9409 | likely_pathogenic | 0.9495 | pathogenic | -2.102 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.675025376 | None | None | N |
| Y/D | 0.9886 | likely_pathogenic | 0.9912 | pathogenic | -3.777 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.675025376 | None | None | N |
| Y/E | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -3.625 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/F | 0.3457 | ambiguous | 0.3484 | ambiguous | -1.553 | Destabilizing | 0.999 | D | 0.753 | deleterious | D | 0.597523462 | None | None | N |
| Y/G | 0.9813 | likely_pathogenic | 0.9845 | pathogenic | -4.064 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| Y/H | 0.976 | likely_pathogenic | 0.9803 | pathogenic | -2.486 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.659006016 | None | None | N |
| Y/I | 0.9586 | likely_pathogenic | 0.9578 | pathogenic | -2.623 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/K | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -2.569 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/L | 0.9505 | likely_pathogenic | 0.9535 | pathogenic | -2.623 | Highly Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| Y/M | 0.9754 | likely_pathogenic | 0.9744 | pathogenic | -2.21 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| Y/N | 0.9483 | likely_pathogenic | 0.9581 | pathogenic | -3.118 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.674823572 | None | None | N |
| Y/P | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.01 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/Q | 0.9968 | likely_pathogenic | 0.9974 | pathogenic | -3.007 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/R | 0.9934 | likely_pathogenic | 0.995 | pathogenic | -2.009 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/S | 0.9819 | likely_pathogenic | 0.9844 | pathogenic | -3.448 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.659006016 | None | None | N |
| Y/T | 0.9891 | likely_pathogenic | 0.9898 | pathogenic | -3.212 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/V | 0.9221 | likely_pathogenic | 0.9172 | pathogenic | -3.01 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/W | 0.8442 | likely_pathogenic | 0.8612 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.821 | 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.