Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26368 | 79327;79328;79329 | chr2:178567030;178567029;178567028 | chr2:179431757;179431756;179431755 |
| N2AB | 24727 | 74404;74405;74406 | chr2:178567030;178567029;178567028 | chr2:179431757;179431756;179431755 |
| N2A | 23800 | 71623;71624;71625 | chr2:178567030;178567029;178567028 | chr2:179431757;179431756;179431755 |
| N2B | 17303 | 52132;52133;52134 | chr2:178567030;178567029;178567028 | chr2:179431757;179431756;179431755 |
| Novex-1 | 17428 | 52507;52508;52509 | chr2:178567030;178567029;178567028 | chr2:179431757;179431756;179431755 |
| Novex-2 | 17495 | 52708;52709;52710 | chr2:178567030;178567029;178567028 | chr2:179431757;179431756;179431755 |
| 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/A | rs371325635  |
-0.356 | 1.0 | D | 0.77 | 0.711 | 0.46435556306 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs371325635 |
-0.356 | 1.0 | D | 0.77 | 0.711 | 0.46435556306 | gnomAD-4.0.0 | 6.84271E-07 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs371325635 |
-0.16 | 1.0 | D | 0.901 | 0.722 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 1.40489E-04 |
| G/V | rs371325635 |
-0.16 | 1.0 | D | 0.901 | 0.722 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/V | rs371325635 |
-0.16 | 1.0 | D | 0.901 | 0.722 | None | gnomAD-4.0.0 | 1.92129E-05 | None | None | None | None | N | None | 1.33522E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.28879E-05 | 0 | 4.80477E-05 |
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 | 0.9284 | likely_pathogenic | 0.9252 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.559498474 | None | None | N |
| G/C | 0.9809 | likely_pathogenic | 0.9785 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.572122227 | None | None | N |
| G/D | 0.9924 | likely_pathogenic | 0.9921 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.548902637 | None | None | N |
| G/E | 0.9958 | likely_pathogenic | 0.9957 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| G/F | 0.9971 | likely_pathogenic | 0.9967 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/H | 0.9961 | likely_pathogenic | 0.9956 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/I | 0.9962 | likely_pathogenic | 0.9959 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/K | 0.9965 | likely_pathogenic | 0.9964 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/L | 0.9944 | likely_pathogenic | 0.9939 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/M | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/N | 0.9929 | likely_pathogenic | 0.9917 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/Q | 0.9928 | likely_pathogenic | 0.992 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| G/R | 0.9863 | likely_pathogenic | 0.9866 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.560005453 | None | None | N |
| G/S | 0.8932 | likely_pathogenic | 0.8916 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.541140729 | None | None | N |
| G/T | 0.9844 | likely_pathogenic | 0.9841 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/V | 0.992 | likely_pathogenic | 0.9917 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.548142168 | None | None | N |
| G/W | 0.9953 | likely_pathogenic | 0.9949 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/Y | 0.9964 | likely_pathogenic | 0.9956 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.903 | 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.