Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28784 | 86575;86576;86577 | chr2:178559782;178559781;178559780 | chr2:179424509;179424508;179424507 |
| N2AB | 27143 | 81652;81653;81654 | chr2:178559782;178559781;178559780 | chr2:179424509;179424508;179424507 |
| N2A | 26216 | 78871;78872;78873 | chr2:178559782;178559781;178559780 | chr2:179424509;179424508;179424507 |
| N2B | 19719 | 59380;59381;59382 | chr2:178559782;178559781;178559780 | chr2:179424509;179424508;179424507 |
| Novex-1 | 19844 | 59755;59756;59757 | chr2:178559782;178559781;178559780 | chr2:179424509;179424508;179424507 |
| Novex-2 | 19911 | 59956;59957;59958 | chr2:178559782;178559781;178559780 | chr2:179424509;179424508;179424507 |
| 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 | rs748783837  |
-1.912 | 1.0 | D | 0.776 | 0.554 | 0.587872879989 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.06E-06 | 0 |
| P/A | rs748783837 |
-1.912 | 1.0 | D | 0.776 | 0.554 | 0.587872879989 | gnomAD-4.0.0 | 1.61046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88366E-06 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.827 | 0.57 | 0.821040667405 | gnomAD-4.0.0 | 1.37608E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02348E-07 | 1.17617E-05 | 0 |
| P/R | None | None | 1.0 | D | 0.842 | 0.573 | 0.701705663459 | gnomAD-4.0.0 | 2.75215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60939E-06 | 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 | 0.7435 | likely_pathogenic | 0.7446 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.536702136 | None | None | N |
| P/C | 0.9741 | likely_pathogenic | 0.9742 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/E | 0.997 | likely_pathogenic | 0.9969 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/G | 0.9787 | likely_pathogenic | 0.978 | pathogenic | -2.152 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/H | 0.9958 | likely_pathogenic | 0.9957 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.564721119 | None | None | N |
| P/I | 0.9862 | likely_pathogenic | 0.9859 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/K | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/L | 0.944 | likely_pathogenic | 0.9437 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.559651329 | None | None | N |
| P/M | 0.9907 | likely_pathogenic | 0.9904 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/N | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/Q | 0.99 | likely_pathogenic | 0.9896 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/R | 0.992 | likely_pathogenic | 0.9918 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.56421414 | None | None | N |
| P/S | 0.9688 | likely_pathogenic | 0.9665 | pathogenic | -1.965 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.563707161 | None | None | N |
| P/T | 0.9655 | likely_pathogenic | 0.9642 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.563707161 | None | None | N |
| P/V | 0.9606 | likely_pathogenic | 0.9596 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.827 | 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.