Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16880 | 50863;50864;50865 | chr2:178611591;178611590;178611589 | chr2:179476318;179476317;179476316 |
| N2AB | 15239 | 45940;45941;45942 | chr2:178611591;178611590;178611589 | chr2:179476318;179476317;179476316 |
| N2A | 14312 | 43159;43160;43161 | chr2:178611591;178611590;178611589 | chr2:179476318;179476317;179476316 |
| N2B | 7815 | 23668;23669;23670 | chr2:178611591;178611590;178611589 | chr2:179476318;179476317;179476316 |
| Novex-1 | 7940 | 24043;24044;24045 | chr2:178611591;178611590;178611589 | chr2:179476318;179476317;179476316 |
| Novex-2 | 8007 | 24244;24245;24246 | chr2:178611591;178611590;178611589 | chr2:179476318;179476317;179476316 |
| 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 | None | None | 1.0 | D | 0.838 | 0.583 | 0.388812400583 | gnomAD-4.0.0 | 1.36903E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79955E-06 | 0 | 0 |
| G/R | rs1310555030  |
None | 1.0 | D | 0.841 | 0.571 | 0.669533849121 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 2.88517E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1310555030 |
None | 1.0 | D | 0.841 | 0.571 | 0.669533849121 | gnomAD-4.0.0 | 6.57834E-06 | None | None | None | None | I | None | 0 | 0 | None | 2.88517E-04 | 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 | 0.9042 | likely_pathogenic | 0.9336 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.656167661 | None | None | I |
| G/C | 0.9754 | likely_pathogenic | 0.986 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.744365012 | None | None | I |
| G/D | 0.9912 | likely_pathogenic | 0.9952 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.628570582 | None | None | I |
| G/E | 0.994 | likely_pathogenic | 0.9971 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/F | 0.9966 | likely_pathogenic | 0.9982 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.995 | likely_pathogenic | 0.9978 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/I | 0.997 | likely_pathogenic | 0.9984 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/K | 0.9965 | likely_pathogenic | 0.9985 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/L | 0.9953 | likely_pathogenic | 0.9977 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/M | 0.9982 | likely_pathogenic | 0.999 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.9865 | likely_pathogenic | 0.9933 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/Q | 0.993 | likely_pathogenic | 0.9968 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/R | 0.984 | likely_pathogenic | 0.9925 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.606739295 | None | None | I |
| G/S | 0.8873 | likely_pathogenic | 0.9206 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.644290386 | None | None | I |
| G/T | 0.99 | likely_pathogenic | 0.9942 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/V | 0.994 | likely_pathogenic | 0.9966 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.685709018 | None | None | I |
| G/W | 0.9933 | likely_pathogenic | 0.9964 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/Y | 0.9952 | likely_pathogenic | 0.9974 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.793 | 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.