Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1484 | 4675;4676;4677 | chr2:178777734;178777733;178777732 | chr2:179642461;179642460;179642459 |
| N2AB | 1484 | 4675;4676;4677 | chr2:178777734;178777733;178777732 | chr2:179642461;179642460;179642459 |
| N2A | 1484 | 4675;4676;4677 | chr2:178777734;178777733;178777732 | chr2:179642461;179642460;179642459 |
| N2B | 1438 | 4537;4538;4539 | chr2:178777734;178777733;178777732 | chr2:179642461;179642460;179642459 |
| Novex-1 | 1438 | 4537;4538;4539 | chr2:178777734;178777733;178777732 | chr2:179642461;179642460;179642459 |
| Novex-2 | 1438 | 4537;4538;4539 | chr2:178777734;178777733;178777732 | chr2:179642461;179642460;179642459 |
| Novex-3 | 1484 | 4675;4676;4677 | chr2:178777734;178777733;178777732 | chr2:179642461;179642460;179642459 |
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 | rs2092381354  |
None | 1.0 | D | 0.784 | 0.723 | 0.890216517135 | gnomAD-4.0.0 | 1.36824E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79866E-06 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.807 | 0.799 | 0.809028025951 | gnomAD-4.0.0 | 6.84119E-07 | None | None | None | None | I | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1275579483 |
None | 1.0 | D | 0.769 | 0.74 | 0.755714991105 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs1275579483 |
None | 1.0 | D | 0.769 | 0.74 | 0.755714991105 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-05 | 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 | 0.9754 | likely_pathogenic | 0.9803 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.721159842 | None | None | I |
| P/C | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/D | 0.9948 | likely_pathogenic | 0.9946 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| P/E | 0.9916 | likely_pathogenic | 0.9925 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| P/F | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| P/G | 0.9877 | likely_pathogenic | 0.9903 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| P/H | 0.9947 | likely_pathogenic | 0.9957 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.843718 | None | None | I |
| P/I | 0.9945 | likely_pathogenic | 0.9952 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| P/K | 0.9955 | likely_pathogenic | 0.9966 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| P/L | 0.9848 | likely_pathogenic | 0.986 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.843718 | None | None | I |
| P/M | 0.9959 | likely_pathogenic | 0.9962 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/N | 0.9945 | likely_pathogenic | 0.9952 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/Q | 0.9912 | likely_pathogenic | 0.9931 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| P/R | 0.9882 | likely_pathogenic | 0.9916 | pathogenic | -0.104 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.794300322 | None | None | I |
| P/S | 0.9925 | likely_pathogenic | 0.9936 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.771819234 | None | None | I |
| P/T | 0.984 | likely_pathogenic | 0.9863 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.773480929 | None | None | I |
| P/V | 0.9852 | likely_pathogenic | 0.9882 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| P/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/Y | 0.9979 | likely_pathogenic | 0.9984 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.826 | 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.