Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34956 | 105091;105092;105093 | chr2:178531749;178531748;178531747 | chr2:179396476;179396475;179396474 |
| N2AB | 33315 | 100168;100169;100170 | chr2:178531749;178531748;178531747 | chr2:179396476;179396475;179396474 |
| N2A | 32388 | 97387;97388;97389 | chr2:178531749;178531748;178531747 | chr2:179396476;179396475;179396474 |
| N2B | 25891 | 77896;77897;77898 | chr2:178531749;178531748;178531747 | chr2:179396476;179396475;179396474 |
| Novex-1 | 26016 | 78271;78272;78273 | chr2:178531749;178531748;178531747 | chr2:179396476;179396475;179396474 |
| Novex-2 | 26083 | 78472;78473;78474 | chr2:178531749;178531748;178531747 | chr2:179396476;179396475;179396474 |
| 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 | rs145748940  |
-3.034 | 1.0 | D | 0.891 | 0.832 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 1.93748E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs145748940 |
-3.034 | 1.0 | D | 0.891 | 0.832 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs145748940 |
-3.034 | 1.0 | D | 0.891 | 0.832 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 2.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/D | rs145748940 |
-3.034 | 1.0 | D | 0.891 | 0.832 | None | gnomAD-4.0.0 | 3.71765E-06 | None | None | None | None | N | None | 3.99861E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69511E-06 | 0 | 1.60031E-05 |
| G/S | None | None | 1.0 | D | 0.858 | 0.835 | 0.6296786883 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 | 0.5517 | ambiguous | 0.5267 | ambiguous | -0.502 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.61198557 | None | None | N |
| G/C | 0.5989 | likely_pathogenic | 0.5952 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.628842508 | None | None | N |
| G/D | 0.5949 | likely_pathogenic | 0.5832 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.60108455 | None | None | N |
| G/E | 0.6417 | likely_pathogenic | 0.6099 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/F | 0.9053 | likely_pathogenic | 0.9053 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/H | 0.615 | likely_pathogenic | 0.62 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/I | 0.9388 | likely_pathogenic | 0.9232 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/K | 0.7301 | likely_pathogenic | 0.6964 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/L | 0.8726 | likely_pathogenic | 0.8524 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/M | 0.9086 | likely_pathogenic | 0.8927 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/N | 0.5423 | ambiguous | 0.5065 | ambiguous | -0.593 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/P | 0.9891 | likely_pathogenic | 0.9885 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/Q | 0.5977 | likely_pathogenic | 0.5736 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/R | 0.5196 | ambiguous | 0.4973 | ambiguous | -0.563 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.591060391 | None | None | N |
| G/S | 0.2489 | likely_benign | 0.2245 | benign | -0.607 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.595764405 | None | None | N |
| G/T | 0.6835 | likely_pathogenic | 0.659 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/V | 0.8949 | likely_pathogenic | 0.8735 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.628640704 | None | None | N |
| G/W | 0.8296 | likely_pathogenic | 0.8396 | pathogenic | -1.507 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Y | 0.817 | likely_pathogenic | 0.8201 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.864 | 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.