Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17846 | 53761;53762;53763 | chr2:178607066;178607065;178607064 | chr2:179471793;179471792;179471791 |
| N2AB | 16205 | 48838;48839;48840 | chr2:178607066;178607065;178607064 | chr2:179471793;179471792;179471791 |
| N2A | 15278 | 46057;46058;46059 | chr2:178607066;178607065;178607064 | chr2:179471793;179471792;179471791 |
| N2B | 8781 | 26566;26567;26568 | chr2:178607066;178607065;178607064 | chr2:179471793;179471792;179471791 |
| Novex-1 | 8906 | 26941;26942;26943 | chr2:178607066;178607065;178607064 | chr2:179471793;179471792;179471791 |
| Novex-2 | 8973 | 27142;27143;27144 | chr2:178607066;178607065;178607064 | chr2:179471793;179471792;179471791 |
| 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/C | rs1559733949  |
None | 1.0 | D | 0.863 | 0.779 | 0.585109566412 | gnomAD-4.0.0 | 1.37003E-06 | None | None | None | None | N | None | 5.99449E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1296371746 |
-1.556 | 1.0 | D | 0.856 | 0.777 | 0.509996732195 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1296371746 |
-1.556 | 1.0 | D | 0.856 | 0.777 | 0.509996732195 | gnomAD-4.0.0 | 1.59548E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78164E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1559733949 |
None | 1.0 | N | 0.805 | 0.596 | 0.353125101423 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1559733949 |
None | 1.0 | N | 0.805 | 0.596 | 0.353125101423 | gnomAD-4.0.0 | 6.85015E-07 | None | None | None | None | N | None | 2.99724E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9019 | likely_pathogenic | 0.8384 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.537118712 | None | None | N |
| G/C | 0.9813 | likely_pathogenic | 0.9662 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.538132671 | None | None | N |
| G/D | 0.9968 | likely_pathogenic | 0.9934 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.537625691 | None | None | N |
| G/E | 0.9981 | likely_pathogenic | 0.9948 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| G/F | 0.9974 | likely_pathogenic | 0.9923 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/H | 0.9983 | likely_pathogenic | 0.9967 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/I | 0.9961 | likely_pathogenic | 0.9882 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/K | 0.9992 | likely_pathogenic | 0.9979 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| G/L | 0.9944 | likely_pathogenic | 0.9875 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/M | 0.9978 | likely_pathogenic | 0.9955 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/N | 0.9964 | likely_pathogenic | 0.9931 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/P | 0.9988 | likely_pathogenic | 0.9975 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/Q | 0.9977 | likely_pathogenic | 0.9949 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/R | 0.9973 | likely_pathogenic | 0.9931 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.525255428 | None | None | N |
| G/S | 0.7763 | likely_pathogenic | 0.7522 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.484414661 | None | None | N |
| G/T | 0.9812 | likely_pathogenic | 0.9708 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/V | 0.993 | likely_pathogenic | 0.9798 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.537625691 | None | None | N |
| G/W | 0.9976 | likely_pathogenic | 0.9936 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Y | 0.9981 | likely_pathogenic | 0.9953 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.878 | 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.